1. Gene
  2. MTHFR - methylenetetrahydrofolate reductase Gene

MTHFR - methylenetetrahydrofolate reductase Gene

Homo sapiens
Gene ID: 4524 | Gene type: protein coding

About MTHFR

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,785,723-11,805,964 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 21 phenotypes. Ubiquitous expression in lung (RPKM 7.5), thyroid (RPKM 7.2) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon Cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

MTHFR Products(3)

mRNA Protein Name
NM_001330358.2 NP_001317287.1 methylenetetrahydrofolate reductase isoform 1
NM_001410750.1 NP_001397679.1 methylenetetrahydrofolate reductase isoform 3
NM_005957.5 NP_005948.3 methylenetetrahydrofolate reductase isoform 2

MTHFR Protein Structure

MTHFR

MTHFR: Methylenetetrahydrofolate reductase (48 - 337)

  • 0
  • 200
  • 400
  • 600
  • 656 a.a.
Protein Preferred Names Protein Names

methylenetetrahydrofolate reductase

5,10-methylenetetrahydrofolate reductase (NADPH)

Related Diseases

Diseases Alias
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

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

Thrombophilia Due To Thrombin Defect

Venous Thromboembolism

Venous Thrombosis

Thrombophilia Due To Factor 2 Defect

Thromboembolism

THPH1

Thromboembolism, Susceptibility To

Venous Thromboembolism, Susceptibility To

Venous Thrombosis, Protection Against

Prothrombin-Related Thrombophilia

Hyperprothrombinemia

Venous Thrombosis, Susceptibility To

Thrombophilia 1 Due To Thrombin Defect

F2-Related Thrombophilia

Factor Ii-Related Thrombophilia

Prothrombin 20210g>A Thrombophilia

Prothrombin G20210a Thrombophilia

Prothrombin Thrombophilia

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Spasticity
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

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

Homocysteinemia

Hyperhomocysteinemia

Myelomeningocele

Meningomyelocele

Isolated Exencephaly
Isolated Anencephaly
Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

Retinal Vein Occlusion

Occlusion, Of Retinal Vein

Upper Thoracic Spina Bifida Cystica
Cervicothoracic Spina Bifida Cystica
Cervical Spina Bifida Cystica
Lumbosacral Spina Bifida Cystica
Thoracolumbosacral Spina Bifida Cystica
Total Spina Bifida Cystica
Upper Thoracic Spina Bifida Aperta
Thoracolumbosacral Spina Bifida Aperta
Lumbosacral Spina Bifida Aperta
Cervical Spina Bifida Aperta

Spina Bifida Aperta Of Cervical Spine

Cervicothoracic Spina Bifida Aperta
Total Spina Bifida Aperta
Central Retinal Vein Occlusion

Crvo

Hyperhomocysteinemia
Spina Bifida Occulta
Vitamin B12 Deficiency

Cobalamin Deficiency

Hypocobalaminemia

Vitamin B 12 Deficiency

Cyanocobalamin Deficiency

Deficiency Of Vitamin B12

Nonarteritic Anterior Ischemic Optic Neuropathy

Anterior Ischemic Optic Neuropathy

Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To

NAION

Non-Arteritic Anterior Ischemic Optic Neuropathy

Ischemic Optic Neuropathy

Aion

Optic Neuropathy, Ischemic

Naion, Susceptibility To

Optic Neuropathy, Anterior Ischemic

Optic Neuropathy, Anterior Ischemic, Susceptibility To

Non-Arteritic Anterior Ischaemic Optic Neuropathy

Nonarteritic Anterior Ischaemic Optic Neuropathy

Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To

Ion - [Ischemic Optic Neuropathy]

Neuropathic Ischaemia Of N.Opticus

Ischaemic Neuropathy Of Optic Nerve

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

Retinal Artery Occlusion

Retina Artery Narrowing

Retinal Artery Spasm

Spasm Of Ophthalmic Artery

Retinal Spasm

Vasospasm Of Retina

Riboflavin Deficiency

Ariboflavinosis

Maternal Riboflavin Deficiency

RBFVD

Vitamin B2 Deficiency

Hyporiboflavinosis

Protein S Deficiency

Protein S Deficiency Disease

Hereditary Thrombophilia Due To Protein S Deficiency

Placental Abruption

Abruptio Placentae

Abruptio Placenta

Abortion, Threatened

Threatened Miscarriage

Haemorrhage Specified As Due To Threatened Abortion

Spontaneous Threatened Abortion

Protein C Deficiency

Hereditary Thrombophilia Due To Protein C Deficiency

Proc Deficiency

Congenital Thrombotic Disease, Due To Protein C Deficiency

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Gastroschisis

Laparoschisis

Congenital Fissure Of The Abdominal Cavity

Abdominal Wall Defect

Abdominal Hernia

Hernia, Abdominal

Omphalocele

Abnormality Of The Abdominal Wall

Congenital Omphalocele

Coeloschisis

Coelioschisis

Celoschisis

Congenital Para-Umbilical Hernia

Cerebrovascular Disease

Cerebrovascular Disorder

Cerebrovascular Accident

Cerebrovascular Disorders

Cva

Stroke

Hemifacial Spasm

Facial Hemispasm

Focal Myoclonus Of Face

Thrombophilia

Hypercoagulability State

Placenta Disease

Placenta Diseases

Placenta Disorder

Pregnancy Complications

Placenta Disorders

Nondisjunction

Mosaicism, Chromosomal

Mixoploidy, Familial

Thrombophlebitis

Phlebitis And Thrombophlebitis Of Superficial Vessels Of Lower Extremities

Superficial Thrombophlebitis Of Leg

Thrombophlebitis Of A Superficial Leg Vein

Thrombophlebitis Of Superficial Veins Of Lower Extremity

Eclampsia

Eclampsia In Puerperium

Postpartum Eclampsia

Eclampsia, Postpartum

Puerperal Eclampsia

Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia

Childhood All

Pediatric Acute Lymphoblastic Leukemia

Lymphoblastic Leukemia Acute Childhood

Pulmonary Embolism

Pulmonary Artery Embolism

Pulmonary Embolus

Pulmonary Emboli

Budd-Chiari Syndrome

Hepatic Vein Thrombosis

Chiari Syndrome

BDCHS

Membranous Obstruction Of The Inferior Vena Cava

Budd-Chiari Syndrome, Somatic

Movc

Budd-Chiari Syndrome, Susceptibility To, Somatic

Budd-Chiari Syndrome, Susceptibility To

Membranous Obstruction Of Inferior Vena Cava

Hepatic Vein Block

Obstruction Of Hepatic Veins

Hepatic Vein Obstruction

Hepatic Venous Block

Antiphospholipid Syndrome

Antiphospholipid Antibody Syndrome

Hughes Syndrome

Familial Antiphospholipid Syndrome

Aps

Lupus Anticoagulant, Familial

Anti-Phospholipid Syndrome

Apls

Classic Apls

Classic Antiphospholipid Syndrome

Acromegaloid Facial Appearance Syndrome

Anticardiolipin Syndrome

Antithrombin Iii Deficiency

Hereditary Antithrombin Deficiency

Congenital Antithrombin Iii Deficiency

Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency

AT3D

Thrombophilia Due To Antithrombin Iii Deficiency

Thph7

Hereditary Thrombophilia Due To Congenital Antithrombin 3 Deficiency

Thrombophilia 7 Due To Antithrombin Iii Deficiency

At Iii Deficiency

Congenital At-Iii Deficiency

Inherited Antithrombin Deficiency

Antithrombin 3 Deficiency

Antithrombin Deficiency

Antithrombin-Iii Deficiency

At-Iii Deficiency

Thrombophilia Due To Antithrombin-Iii Deficiency

Encephalomalacia
Thrombophilia Due To Activated Protein C Resistance

Activated Protein C Resistance

Apc Resistance

THPH2

Thrombophilia Due To Deficiency Of Activated Protein C Cofactor

Proc Cofactor Deficiency

Pccf Deficiency

Thrombophilia V

Thrombophilia, Susceptibility To, Due To Factor V Leiden

Thrombophilia Due To Factor V Leiden

Thrombophilia 2 Due To Activated Protein C Resistance

Thrombophilia, Susceptibility To, Due To Activated Protein C Resistance

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Hellp Syndrome

Hemolysis, Elevated Liver Enzymes, Lowered Platelets

Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy

Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome

Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet]

Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome

Portal Vein Thrombosis

Phlebitis Of Portal Vein

Deep Vein Thrombosis Of Portal Vein

Portal Thrombosis

Pvt - [Portal Vein Thrombosis]

Portal Venous Thrombosis

Portal Venous Embolism

Portal Venous Obstruction

Portal Venous Block

Portal Vein Embolism

Portal Vein Block

Portal Obstruction

Portal Embolism

Portal Block

Hepatic Portal Vein Obstruction

Occlusion Of Hepatic Portal Vein

Portal Vein Obstruction

Amaurosis Fugax

Transient Monocular Blindness

Momentary Blindness

Af - [Amaurosis Fugax]

Transient Vision Loss, Spontaneous

Amaurosis Fugax, Course Of Resolution Unspecified

Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All

Migraine Without Aura

Common Migraine

Migraine With Or Without Aura, Susceptibility To

Migraine Without Aura, Susceptibility To

Acute Migraine Without Aura

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Thrombosis

Thrombosis Of Blood Vessel

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

Migraine With Aura

Classic Migraine

Migraine With Typical Aura

Migraine Accompagnée

Complicated Migraine

Classical Migraine

Acute Migraine With Aura

Pre-Eclampsia

Preeclampsia

Gestational Hypertension

Hypertension Induced By Pregnancy

Pre-Eclamptic Toxaemia

Pregnancy Associated Hypertension

Proteinuric Hypertension Of Pregnancy

Hypertension, Pregnancy-Induced, Susceptibility To

Preeclampsia/Eclampsia

Pregnancy Toxemia

Toxaemia Of Pregnancy

Gestational Proteinuric Hypertension

Pregnancy-Induced Hypertension

Toxemia Of Pregnancy

Preeclampsia, Susceptibility To

Transient Hypertension Of Pregnancy

Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria

Gestational Hypertension Nos

Mild Proteinuric Hypertension Of Pregnancy

Pih - [Pregnancy-Induced Hypertension]

Pregnancy-Induced Hypertension Nos

Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria

Pe - [Pre-Eclampsia]

Pre-Eclampsia Nos

Pre-Eclamptic Nos

Pregnancy Pre-Eclampsia

Puerperal Pre-Eclampsia

Pre-Eclampsia Toxaemia

Toxaemia In Pregnancy

Pet - [Pre-Eclamptic Toxaemia]

Maternal Toxaemia

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

Cervical Intraepithelial Neoplasia

CIN

Vascular Dementia

Dementia, Vascular

Multi Infarct Dementia

Multifocal Dementia

Dementia Vascular

Vascular Dementia, Susceptibility To

Dementia, Multi-Infarct

Multi-Infarct Dementia

Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Multiple Chemical Sensitivity

Environmental Illness

20th Century Disease

Chemical Aids

Idiopathic Environmental Illness

Total Allergy Syndrome

Intracranial Thrombosis

Cerebral Thrombosis

Thrombosis Of Cerebral Veins

Cerebral Arterial Thrombosis

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Carotid Stenosis

Carotid Artery Stenosis

Stenosis, Carotid Artery

Venous Insufficiency

Peripheral Venous Insufficiency

Osteonecrosis

Bone Necrosis

Avascular Necrosis Of Bone

Aseptic Necrosis

Necrosis Of Bone Nos

Aseptic Osteonecrosis

Aseptic Necrosis Of Bone, Site Unspecified

Aseptic Or Avascular Bone Necrosis

Aseptic Necrosis Of Bone

Necrotic Bone

Necrotizing Bone

Spontaneous Osteonecrosis

Osteoradionecrosis

Nutritional Deficiency Disease

Malnutrition

Nutritional Disorder

Nutritional Deficiency

Nutrition

Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Nutrition Disorders

Vitamin Metabolic Disorder
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

Peripheral Vascular Disease

Peripheral Arterial Disease

Arterial Occlusive Disease

Arterial Occlusive Diseases

Pad

Peripheral Vascular Diseases

Peripheral Occlusive Disease

Peripheral Arterial Diseases

Helicobacter Infections

Varicose Veins

Varices

Varix

Venous Ectasia

Venous Varices

Varicosity

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

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Lateral Sinus Thrombosis

Thrombosis Of Lateral Venous Sinus

Thrombosis Transverse Sinus

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Transient Cerebral Ischemia

Transient Ischemic Attack

Transient Ischemic Attacks

Tia

Tia - Transient Ischaemic Attack

Transient Cerebral Ischaemia

Ischemic Attack, Transient

Intermittent Cerebral Ischemia

Tia - [Transient Ischaemic Attack]

Intermittent Cerebral Ischaemia

Transient Cerebral Ischaemic Attack, Unspecified, Course Of Resolution Unspecified

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Nephrosclerosis

Renal Sclerosis

Livedoid Vasculitis

Livedoid Vasculopathy

Livedo Reticularis With Summer Ulcerations

Livedo Vasculitis

Livedo Reticularis With Winter Ulcerations

Segmental Hyalinizing Vasculopathy

Milian Atrophie Blanche

Segmental Hyalinizing Vasculitis

Livedo Reticularis With Summer Ulceration

Myelitis

Spinal Cord Inflammation Nos

Radiculomyelitis Nos

Myeloradiculitis

Smallpox

Variola

Ordinary Smallpox

Alastrim

Amaas

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

Schizoaffective Disorder

Schizo-Affective Psychosis

Schizo-Affective Type Schizophrenia

Schizoaffective Psychosis

Schizoaffective Schizophrenia

Schizophrenia, Schizo-Affective Type

Schizophreniform Psychosis, Affective Type

Branch Retinal Artery Occlusion

Retinal Artery Occlusion

Arterial Retinal Branch Occlusion

Retinal Arterial Branch Occlusion

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

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Intracranial Sinus Thrombosis

Sinus Thrombosis, Intracranial

Prothrombin Thrombophilia

Prothrombin G20210a Thrombophilia

Hyperprothrombinemia

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Retinal Vascular Occlusion

Retinal Vasc. Occlusion

Occlusion Of Retinal Vessels

Retinal Obstruction

Thrombasthenia
Pregnancy Loss, Recurrent 1

Pregnancy Loss, Recurrent, Susceptibility To, 1

Rpl

RPRGL1

Rprgl

Recurrent Miscarriage

Recurrent Spontaneous Abortion

Abortion, Spontaneous, Recurrent

Fetal Loss, Recurrent

Fetal Loss, Recurrent, Susceptibility To

Miscarriage, Recurrent

Embryonic Loss, Recurrent

Stillbirth, Recurrent

Pregnancy Loss, Recurrent, 1

Recurrent Embryonic Loss

Recurrent Fetal Loss

Recurrent Stillbirth

Spontaneous Recurrent Abortion

Miscarriage Recurrent

Pregnancy Loss, Recurrent, Susceptibility To, Type 1

Abortion, Habitual

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Hyperuricemia

Blood Urate Raized

Uricacidemia

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

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Central Nervous System Origin Vertigo

Vertigo Of Central Origin

Vertigo

Central Vestibular Vertigo

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

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

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

Varicocele

Scrotal Varices

Varicoceles

Varicocele Of Scrotum

Scrotal Varicocele

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

Takayasu Arteritis

Aortic Arch Syndrome

Pulseless Disease

Takayasu'S Arteritis

Idiopathic Aortitis

Young Female Arteritis

Aortic Arch Arteritis

Aortic Arches Defect

Aortic Arch Defects

Takayasu Disease

Aortic Arch Syndromes

Takayasu'S Disease

Ta

Obliterative Aortitis

Aortic Arch Giant-Cell Arteritis

Subclavian-Carotid Obstruction Syndrome

Idiopathic Medial Aortopathy And Arteriopathy

Takayasu Syndrome

Obliterative Brachiocephalic Arteritis Syndrome

Raeder-Harbitz Syndrome

Chronic Subclavian-Carotid Obstruction Syndrome

Giant-Cell Aortitis

Takayasu Aortitis

Nonspecific Aortoarteritis

Sclerosing Aortitis And Arteritis

Martorell 2 Syndrome

Young Female Aortic Arch Arteritis Syndrome

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Sagittal Sinus Thrombosis

Thrombosis Of Superior Longitudinal Sinus

Thrombosis Of Superior Sagittal Sinus

Thrombosis Superior Sagittal Sinus

Central Retinal Artery Occlusion
Microphthalmia, Isolated 5

Isolated Microphthalmia 5

MCOP5

Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Microphthalmia, Isolated, 5

Microphthalmia Mfrp-Related

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

Microphthalmia, Isolated, Type 5

Vein Disease

Disorder Of Vein

Mastoiditis

Mastoiditis Nec

Atherosclerosis Susceptibility

Atherosclerosis

Atherosclerosis, Susceptibility To

ATHS

Atherogenic Lipoprotein Phenotype

Alp

Arteriosclerosis

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

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

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Diabetes Mellitus

Diabetes

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Cardia Cancer

Ca Cardia - Stomach

Malignant Neoplasm Of Cardia Of Stomach

Blood Coagulation Disease

Blood Coagulation Disorders

Coagulation Protein Disease

Inherited Blood Coagulation Disease

Postpartum Coagulation Defect

Postpartum Coagulation Defect With Delivery

Coagulation Protein Disorders

Puerperal Coagulopathy

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Biotinidase Deficiency

Late-Onset Multiple Carboxylase Deficiency

BTD DEFICIENCY

Multiple Carboxylase Deficiency, Late-Onset

Multiple Carboxylase Deficiency, Juvenile-Onset

Juvenile-Onset Multiple Carboxylase Deficiency

Biotin Deficiency

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Deficiency Of Biotinidase

Biot

Carboxylase Deficiency, Multiple, Late-Onset

Late-Onset Mcd

Mcd Juvenile Form

Biotin Deficiency Disease

Meningocele

Isolated Spina Bifida

Spina Bifida

Cleft Spine

Open Spine

Rachischisis

Spinal Dysraphism

Spinal Meningocele

Congenital Meningocele

Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

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

Choline Deficiency Disease

Choline Deficiency

Physical Disorder

Physical Illness

Intracranial Hypotension
Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Cerebral Atherosclerosis

Intracranial Arteriosclerosis

Pulmonary Artery Disease

Abnormality Of The Pulmonary Artery

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

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

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Vertical Talus, Congenital

Congenital Vertical Talus

CVT

Congenital Convex Pes Valgus

Rocker-Bottom Foot Deformity

Vertical Talus

Pes Valgus, Congenital Convex

Congenital Convex Foot

Congenital Rocker-Bottom Foot

Rocker Bottom Foot

Flatfoot

Rocker-Bottom Foot

Charcot-Marie-Tooth Disease, Foot Deformity Of

Autoimmune Disease Of Cardiovascular System
Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease

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

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

Argininemia

Hyperargininemia

Arginase Deficiency

Arg1 Deficiency

Arginase-1 Deficiency

Deficiency Of Canavanase

Arginase Deficiency Disease

ARGIN

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Colorectal Cancer, Hereditary Nonpolyposis, Type 5

HNPCC5

Hereditary Nonpolyposis Colorectal Cancer Type 5

Hereditary Non-Polyposis Colorectal Cancer 5

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Orofacial Cleft

Cleft, Orofacial

Chromosomal Duplication Syndrome
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris MTHFR VGNC VGNC:43473
Felis catus MTHFR VGNC VGNC:68339
Bos taurus MTHFR VGNC VGNC:31731
Macaca mulatta MTHFR VGNC VGNC:75069
Mus musculus MTHFR MGD MGI:106639
Rattus norvegicus MTHFR RGD RGD:1309952