CBS - cystathionine beta-synthase Gene

Also Known as CBSL; HIP4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 875

About CBS

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:43,053,191-43,076,873 (from NCBI)

This gene has 17 transcripts (splice variants), 277 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 30.2), brain (RPKM 11.6) and 6 other tissues.

Summary

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

CBS Products (5)

mRNA Protein Name
NM_000071.3 NP_000062.1 cystathionine beta-synthase isoform 1
NM_001178008.3 NP_001171479.1 cystathionine beta-synthase isoform 1
NM_001178009.3 NP_001171480.1 cystathionine beta-synthase isoform 1
NM_001320298.2 NP_001307227.1 cystathionine beta-synthase isoform 1
NM_001321072.1 NP_001308001.1 cystathionine beta-synthase isoform 2
Molecular Function GO Annotation Evidence References Source
enables S-adenosyl-L-methionine binding IDA
IDA: Inferred from direct assay
22985361 GOA
enables carbon monoxide binding IDA
IDA: Inferred from direct assay
24515102 GOA
enables cystathionine beta-synthase activity IDA
IDA: Inferred from direct assay
7929220 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
17087506 GOA
enables heme binding EXP
EXP: Inferred from Experiment
29410458 GOA
enables heme binding IDA
IDA: Inferred from direct assay
7929220 GOA
enables heme binding IMP
IMP: Inferred from mutant phenotype
18776696 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables modified amino acid binding IDA
IDA: Inferred from direct assay
20031578 GOA
enables nitric oxide binding IDA
IDA: Inferred from direct assay
24416422 GOA
enables nitrite reductase (NO-forming) activity IDA
IDA: Inferred from direct assay
24416422 GOA
enables oxygen binding IDA
IDA: Inferred from direct assay
24515102 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
11483494 GOA
enables pyridoxal phosphate binding IDA
IDA: Inferred from direct assay
7929220 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
17087506 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA protection IMP
IMP: Inferred from mutant phenotype
24534463 GOA
involved in L-cysteine catabolic process IDA
IDA: Inferred from direct assay
15520012 GOA
involved in L-serine catabolic process IDA
IDA: Inferred from direct assay
18776696 GOA
involved in L-serine metabolic process IDA
IDA: Inferred from direct assay
19010420 GOA
involved in cysteine biosynthetic process IDA
IDA: Inferred from direct assay
24416422 GOA
involved in homocysteine catabolic process IDA
IDA: Inferred from direct assay
18776696 GOA
involved in homocysteine metabolic process IDA
IDA: Inferred from direct assay
19010420 GOA
involved in hydrogen sulfide biosynthetic process IDA
IDA: Inferred from direct assay
15520012 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
23981774 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17087506 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CBS Protein Structure

PALP

PALP: Pyridoxal-phosphate dependent enzyme (83 - 376)

CBS

CBS: CBS domain (422 - 469)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 551 a.a.
Protein Preferred Names Protein Names

cystathionine beta-synthase

  • Cystathionine beta-synthase-like protein

CBS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CBS P35520 UBE2I Homo sapiens Q7KZS0 32296183
Intra
CBS P35520 UBE2I Homo sapiens Q7KZS0 32296183
Intra
CBS P35520 UBE2I Homo sapiens Q7KZS0 25416956
Intra
CBS P35520 UBE2I Homo sapiens Q7KZS0 32296183
Intra
CBS P35520 PRKAG1 Homo sapiens P54619 25416956
Intra
CBS P35520 PRKAG1 Homo sapiens P54619 25416956
Intra
CBS P35520 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
CBS P35520 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
CBS P35520 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
CBS P35520 ZMYM5 Homo sapiens Q9UJ78-2 32296183
Intra
CBS P35520 ZMYM5 Homo sapiens Q9UJ78-2 32296183
Intra
CBS P35520 ZMYM5 Homo sapiens Q9UJ78-2 32296183
Intra
CBS P35520 KAT5 Homo sapiens Q92993-2 32814053
Intra
CBS P35520 KAT5 Homo sapiens Q92993-2 32814053
Intra
CBS P35520 KAT5 Homo sapiens Q92993-2 32814053
Intra
CBS P35520 UBASH3A Homo sapiens P57075 25416956
Intra
CBS P35520 UBASH3A Homo sapiens P57075 25416956
Intra
CBS P35520 EHHADH Homo sapiens Q08426 25416956
Intra
CBS P35520 PIAS2 Homo sapiens O75928-2 32296183
Intra
CBS P35520 PIAS2 Homo sapiens O75928-2 32296183
Intra
CBS P35520 HTT Homo sapiens P42858 32814053
Intra
CBS P35520 HTT Homo sapiens P42858 32814053
Intra
CBS P35520 HTT Homo sapiens P42858 32814053
Intra
CBS P35520 PRKACA Homo sapiens P17612 32814053
Intra
CBS P35520 PRKACA Homo sapiens P17612 32814053
Intra
CBS P35520 PRKACA Homo sapiens P17612 32814053
Intra
CBS P35520 CTNNB1 Homo sapiens P35222 32814053
Intra
CBS P35520 CTNNB1 Homo sapiens P35222 32814053
Intra
CBS P35520 CTNNB1 Homo sapiens P35222 32814053
Intra
CBS P35520 FYN Homo sapiens P06241 32814053
Intra
CBS P35520 FYN Homo sapiens P06241 32814053
Intra
CBS P35520 FYN Homo sapiens P06241 32814053
Intra
CBS P35520 GAL Homo sapiens P22466 32814053
Intra
CBS P35520 GAL Homo sapiens P22466 32814053
Intra
CBS P35520 GAL Homo sapiens P22466 32814053
Intra
CBS P35520 PIN1 Homo sapiens Q13526 25416956
Intra
CBS P35520 PIN1 Homo sapiens Q13526 25416956
Intra
CBS P35520 FXR2 Homo sapiens P51116 21653829
Intra
CBS P35520 FXR2 Homo sapiens P51116 16189514
Intra
CBS P35520 CBS Homo sapiens P35520 31515488
Intra
CBS P35520 CBS Homo sapiens P35520 25416956
Intra
CBS P35520 CBS Homo sapiens P35520 25502805
Intra
CBS P35520 CBS Homo sapiens P35520
Y2H
21900206
Intra
CBS P35520 CBS Homo sapiens P35520 16189514
Intra
CBS P35520 CBS Homo sapiens P35520 19447967
Intra
CBS P35520 CYTH1 Homo sapiens Q15438 32814053
Intra
CBS P35520 CYTH1 Homo sapiens Q15438 32814053
Intra
CBS P35520 CYTH1 Homo sapiens Q15438 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CBS Proteins

Cat. No. Product Name Accession Purity
HY-P72118 CBS Protein, Human (His) P35520 (P2-K551) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
  • Homocystinuria With Or Without Response To Pyridoxine

  • Cystathionine Beta-Synthase Deficiency

  • Cbs Deficiency

  • Homocystinuria, B6-Responsive And Nonresponsive Types

  • Hyperhomocysteinemia, Thrombotic, Cbs-Related

  • Thrombosis, Hyperhomocysteinemic

  • Homocystinuria Due To Cbs Deficiency

  • Classic Homocystinuria

  • Homocystinuria Due To Cystathionine Beta-Synthase

  • CBSD

  • Hyperhomocysteinemia Thrombotic Cbs-Related

  • Cystathionine Beta-Synthase Deficiency Disease

Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency
  • Classic Homocystinuria

  • Cystathionine Beta-Synthase Deficiency

  • Homocystinuria Due To Cystathionine Beta-Synthase Deficiency

Homocystinuria
  • Cystathionine Beta Synthase Deficiency

  • Homocysteinemia

  • Cbs Deficiency

  • Cystathionine Synthase Deficiency

  • Cystathionine Beta-Synthase Deficiency Disease

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

Hyperhomocysteinemia
Ideomotor Apraxia
  • Apraxia, Ideomotor

  • Classic Apraxia

  • Ideomotor Dyspraxia

  • Limb-Kinetic Apraxia

  • Transcortical Apraxia

Pyridoxine Deficiency
  • Vitamin B6 Deficiency

  • Vitamin Deficiency, B6

  • Vitamin B 6 Deficiency

  • Pyridoxal Deficiency

  • Pyridoxamine Deficiency

  • Vitamin B6 Deficiency Syndrome

Isolated Ectopia Lentis
  • Familial Ectopia Lentis

  • Ectopia Lentis

  • Ectopia Lentis Syndrome

  • Lens Subluxation

  • Iel

  • Congenital Ectopia Lentis

  • Subluxation Of Lens

  • Ectopia Lentis, Isolated

  • Ectopia Lentis Isolated

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

Writing Disorder
Tinea Nigra
  • Microsporosis Nigra

  • Infection By Cladosporium Werneckii

  • Keratomycosis Nigricans

  • Tinea Palmaris Nigra

  • Keratomycosis Nigricans Palmaris

Gerstmann Syndrome
  • Aphasia-Angular Gyrus Syndrome

  • Developmental Gerstmann Syndrome

  • Gs

  • Gerstmann Badal Syndrome

  • Gerstmann Tetrad

  • Gerstmann'S Syndrome

  • Developmental Gerstmann'S Syndrome

Dysgraphia
  • Agraphia

Vascular Disease
  • Vascular Diseases

  • Aneurysm

  • Spinal Cord Ischemia

  • Vascular Anomaly

  • Spinal Cord Vascular Diseases

  • Vascular Tissue Disease

Methionine Adenosyltransferase I/Iii Deficiency
  • Mat I/Iii Deficiency

  • Mat Deficiency

  • Methionine Adenosyltransferase Deficiency, Autosomal Recessive

  • Hypermethioninemia, Persistent, Autosomal Dominant, Due To Methionine Adenosyltransferase I/Iii Deficiency

  • Methionine Adenosyltransferase Deficiency

  • Hypermethioninemia, Isolated Persistent

  • Brain Demyelination Due To Methionine Adenosyltransferase Deficiency

  • MATD

  • Isolated Persistent Hypermethioninemia

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Deficiency Of Acetyl-Coa Acetyltransferase

Astereognosia
  • Somatosensory Agnosia

  • Tactile Agnosia

Myelomeningocele
  • Meningomyelocele

Speech And Communication Disorders
  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder

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

Cerebrovascular Disease
  • Cerebrovascular Disorder

  • Cerebrovascular Accident

  • Cerebrovascular Disorders

  • Cva

  • Stroke

Amino Acid Metabolic Disorder
  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders

Homocysteinemia
  • Hyperhomocysteinemia

Glycine N-Methyltransferase Deficiency
  • GNMT DEFICIENCY

  • Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

  • Hypermethioninemia Due To Gnmt Deficiency

  • Hypermethioninemia

  • Hepatic Methionine Adenosyltransferase Deficiency

Malt Worker'S Lung
  • Alveolitis Due To Aspergillus Clavatus

  • Malt Worker Lung

  • Malt Workers' Lung

  • Malt-Workers' Lung

  • Malt Fever

  • Malt House Workers' Cough

  • Malt-Workers' Alveolitis

  • Malt-Workers' Lung Disease

  • Alveolitis Due To Aspergillus Fumigatus

  • Extrinsic Allergic Alveolitis Due To Aspergillus Spp

Agraphia
Trigonitis
  • Bladder Trigonitis

  • Pseudomembranous Trigonitis

Dermatomycosis
  • Dermatomycoses

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

Eumycotic Mycetoma
  • Eumycetoma

  • Maduromycosis

  • Mycetoma

  • Madura Foot

  • Maduromycosis, Mycotic

  • Mycotic Mycetoma

  • Mycetoma Of Foot

  • Eumycotic Maduromycosis

  • Mycetoma Due To Fungal Infection

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

Trichosporonosis
Phaeohyphomycosis
  • Infection By Dematiacious Fungi

  • Phaehyphomycosis

  • Phaeomycosis

  • Pheohyphomycosis

  • Infection By Dematiacious Fungi [Phaehyphomycosis]

  • Dematiaceous Fungal Infection

External Ear Disease
  • Diseases Of External Ear

  • Preauricular Cyst

  • Preauricular Sinus And Fistula

  • Preauricular Sinus Or Fistula

Vascular Parkinsonism
Cystathioninuria
  • Cystathionase Deficiency

  • Gamma-Cystathionase Deficiency

  • Cystathione Gamma-Lyase Deficiency Syndrome

  • Cystathionine Gamma-Lyase Deficiency Syndrome

  • CSTNU

Tinea Corporis
  • Dermatophytosis Of The Body

  • Dermatophytosis Of The Trunk

Thrombophilia
  • Hypercoagulability State

Superficial Mycosis
  • Piedra

  • Steroid-Modified Tinea Infection

Peripheral Vascular Disease
  • Peripheral Arterial Disease

  • Arterial Occlusive Disease

  • Arterial Occlusive Diseases

  • Pad

  • Peripheral Vascular Diseases

  • Peripheral Occlusive Disease

  • Peripheral Arterial Diseases

  • Helicobacter Infections

Otitis Externa
  • Swimmer'S Ear

  • Infective Otitis Externa

  • Acute Infective Otitis Externa

Otomycosis
  • Singapore Ear

Thrombosis
  • Thrombosis Of Blood Vessel

Nominal Aphasia
  • Anomia

  • Anomic Aphasia

Vascular Dementia
  • Dementia, Vascular

  • Multi Infarct Dementia

  • Multifocal Dementia

  • Dementia Vascular

  • Vascular Dementia, Susceptibility To

  • Dementia, Multi-Infarct

  • Multi-Infarct Dementia

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

Alexia
  • Dyslexia

  • Dyslexia, Acquired

  • Acquired Dyslexia

  • Aphemesthaesia

Subcutaneous Mycosis
  • Subcutaneous Fungal Disease

Wolff-Parkinson-White Syndrome
  • Wolff-Parkinson-White Pattern

  • Wpw Syndrome

  • Anomalous Atrioventricular Excitation

  • Anomalous A-V Excitation

  • Ventricular Pre-Excitation With Arrhythmia

  • WPWS

  • Ventricular Familial Preexcitation Syndrome

  • Preexcitation Syndrome

  • Ventricular Preexcitation

  • Wpw - [Wolff-Parkinson- White] Syndrome

  • Pre-Excitation Syndrome

Tinea Barbae
  • Dermatophytosis Of Beard

Visual Agnosia
  • Primary Visual Agnosia

Tinea Capitis
  • Dermatophytosis Of Scalp

  • Scalp Ringworm

  • Dermatophytosis Of Scalp Or Beard

  • Tinea Capitis Due To Trichophyton Rubrum

  • Trichophyton Rubrum Tinea Capitis

Anosognosia
White Piedra
  • Tinea Blanca

  • Trichosporosis Nodosa

Finger Agnosia
Cardiovascular System Disease
  • Abnormality Of The Cardiovascular System

  • Cardiovascular Disease

  • Disease Of Subdivision Of Hemolymphoid System

  • Disorder Of Cardiovascular System

  • Cardiovascular Diseases

Malignant Hyperthermia
  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever

Tinea Unguium
  • Dermatophytosis Of Nail

  • Onychomycosis Due To Dermatophyte

  • Cellulitis And Abscess

  • Cellulitis And Abscess Of Buttock

  • Cellulitis And Abscess Of Face

  • Cellulitis And Abscess Of Finger

  • Cellulitis And Abscess Of Finger And Toe

  • Cellulitis And Abscess Of Gluteal Region

  • Cellulitis And Abscess Of Trunk

  • Cellulitis And Abscess Of Upper Arm And Forearm

  • Dermatophytic Onychia

  • Dermatophytic Onychomycosis

  • Onychomycosis

  • Ringworm Of Nails

  • Tinea Of Nail

Topographical Agnosia
Simultanagnosia
Dermatophytosis
  • Tinea

  • Dermatophytosis, Unspecified

  • Ringworm

  • Infections Due To Species Of Epidermophyton, Microsporum And Trichophyton

  • Cutaneous Mycosis

  • Dermal Mycosis

  • Superficial Mycosis, Unspecified

  • Fungus Infection Of Skin

  • Skin Mycosis

  • Dermatitis Fungoid

  • Fungal Dermatitis

  • Fungal Dermatosis

  • Mycotic Infection Of Skin

Gait Apraxia
Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Arteriosclerosis
  • Arteriosclerotic Vascular Disease

Encephalopathy, Ethylmalonic
  • Ethylmalonic Encephalopathy

  • EE

  • Epema Syndrome

  • Encephalopathy, Petechiae, And Ethylmalonic Aciduria

  • Ethe1 Deficiency

  • Eme

  • Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Sporotrichosis
  • Rose Gardener'S Disease

Tinea Favosa
  • Favus

Conidiobolomycosis
  • Infection By Conidiobolus

  • Rhinoentomophthoromycosis

  • Entomophthoromycosis Conidiobolae

Chromoblastomycosis
  • Chromomycosis

  • Mossy Foot Disease

  • Verrucous Dermatitis

  • Fonseca Disease

  • Pedroso Disease

  • Drechslera Hawaiiensis

  • Drechslera Infection

Tinea Cruris
  • Dermatophytosis Of Groin & Perianal Area

  • Dermatophytosis Of Groin And Perianal Area

  • Dhobie Itch

  • Tinea Of Perianal Region

Aphasia
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

Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Hypomagnesemia 6, Renal
  • Renal Hypomagnesemia 6

  • HOMG6

  • Renal Hypomagnesemia-6

  • Hypomagnesemia 6

  • Hypomagnesemia, Type 6, Renal

Familial Hypercholesterolemia
  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Pityriasis Versicolor
  • Tinea Versicolor

  • Infection By Pityrosporum Furfur

Ectopia Lentis 1, Isolated, Autosomal Dominant
  • ECTOL1

  • Ectopia Lentis, Familial

  • Autosomal Dominant Isolated Ectopia Lentis 1

Pancytopenia
Fusariosis
  • Fusarium Infection

Tinea Manuum
  • Tinea Manus

  • Dermatophytosis Of Hand

Urethral Syndrome
  • Urethral Disease

  • Urethral Diseases

  • Urethra Disease

  • Abnormality Of The Urethra

  • Urethral Disorders

Acute Megakaryocytic Leukemia
  • Acute Megakaryoblastic Leukemia

  • Acute Megakaryoblastic Leukaemia

  • Megakaryocytic Myelosis

  • Thrombocytic Leukaemia

  • Amkl

  • Aml M7

  • Acute Myeloblastic Leukemia Type 7

  • Acute Myeloid Leukemia M7

  • Megakaryoblastic Leukemia Acute

  • Leukemia, Megakaryoblastic, Acute

  • Acute Myeloid Leukaemia, M7

  • Acute Megakaryocytic Leukaemia

  • Acute Megakaryoblastic Leukaemia, Fab M7

  • Fab M7

  • Malignant Megakaryocytosis

  • M7 - Acute Megakaryoblastic Leukaemia

  • Megakaryoblastic Leukaemia

  • Megakaryocytic Leukaemia

  • Acute Megakaryoblastic Leukaemia, Nos

  • Acute Megakaryoblastic Leukaemia Without Mention Of Remission

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

Tinea Pedis
  • Athlete'S Foot

  • Dermatophytosis Of Foot

  • Ringworm Of Foot

  • Moccasin Foot

Ectopia Lentis 2, Isolated, Autosomal Recessive
  • ECTOL2

  • Ectopia Lentis, Isolated, Autosomal Recessive

  • Autosomal Recessive Isolated Ectopia Lentis 2

  • Autosomal Recessive Isolated Ectopia Lentis

  • Ectopia Lentis, Isolated Autosomal Recessive

  • Ectopia Lentis, Isolated Autosomal Recessive, Type 2

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Dementia, Lewy Body
  • Lewy Body Dementia

  • Lewy Body Disease

  • Diffuse Lewy Body Disease

  • Dementia With Lewy Bodies

  • DLB

  • Autosomal Dominant Diffuse Lewy Body Disease

  • Cortical Lewy Body Disease

  • Dementia, Lewy Body, Susceptibility To

  • Lewy Body Dementia, Susceptibility To

  • Senile Dementia Of The Lewy Body Type

  • Dementia Of The Lewy Body Type

  • Lbd

  • Diffuse Lewy Body Disease With Gaze Palsy

  • Dysphasic Dementia Hereditary

  • Lewy Body Type Senile Dementia

  • Lewy Body Variant Of Alzheimer Disease

  • Lewy Bodies

  • Lewy Body

  • Dlbd - [Diffuse Lewy Body Disease]

  • Clbd - [Cortical Lewy Body Disease]

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

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

Lens Subluxation
  • Subluxation Of Lens

Multiple System Atrophy 1
  • Multiple System Atrophy

  • Shy-Drager Syndrome

  • Msa

  • MSA1

  • Multiple System Atrophy 1, Susceptibility To

  • Sporadic Olivopontocerebellar Atrophy

  • Multisystem Atrophy

  • Msa1, Susceptibility To

  • Multiple System Atrophy, Susceptibility To

  • Opca

  • Progressive Autonomic Failure With Multiple System Atrophy

  • Sds

Primary Systemic Mycosis
Fungal Infectious Disease
  • Mycoses

  • Mycosis

Pseudobulbar Palsy
  • Pseudobulbar Paralysis

Agnosia
  • Dyspraxia

  • Primary Visual Agnosia

  • Dyspraxia Syndrome

  • Monomodal Visual Amnesia

  • Visual Amnesia

  • Agnosia, Primary Visual

  • Apraxias

  • Alexia

Vitamin B12 Deficiency
  • Cobalamin Deficiency

  • Hypocobalaminemia

  • Vitamin B 12 Deficiency

  • Cyanocobalamin Deficiency

  • Deficiency Of Vitamin B12

Movement Disease
  • Movement Disorders

  • Movement Disorder

Osteopetrosis, Autosomal Recessive 6
  • OPTB6

  • Autosomal Recessive Osteopetrosis 6

  • Autosomal Recessive Osteopetrosis Intermediate Form

  • Osteopetrosis, Autosomal Recessive, Intermediate Form

  • Osteopetrosis Autosomal Recessive 6

  • Autosomal Recessive Osteopetrosis Type 6

  • Osteopetrosis Autosomal Recessive Intermediate Form

  • Intermediate Osteopetrosis

  • Autosomal Recessive Intermediate Osteopetrosis

  • Osteopetrosis, Autosomal Recessive, Type 6

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

Vitamin Metabolic Disorder
Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Specific Developmental Disorder
Myotonia Congenita
  • Congenital Myotonia, Autosomal Dominant Form

  • Congenital Myotonia

  • Thomsen And Becker Disease

  • Thomsen Disease

  • Thomsen'S Disease

  • Generalized Myotonia Of Thomsen

  • Congenital Myotonic Muscular Dystrophy

  • Myotonia Congenita Nos

Normal Pressure Hydrocephalus
  • Low Pressure Hydrocephalus

  • Hydrocephalus Normal Pressure

  • Hydrocephalus, Normal Pressure

  • Normal Pressure Hydrocephalus Nos

  • Nph - [Normal Pressure Hydrocephalus]

  • Normal Pressure Hydrocephaly

Speech Disorder
  • Speech Disorders

Chromosomal Duplication Syndrome
Phenylketonuria
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

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

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

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

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

Cortical Deafness
Methylmalonic Acidemia
  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Galloway-Mowat Syndrome 1
  • Galloway Syndrome

  • Nephrosis-Neuronal Dysmigration Syndrome

  • Nephrosis-Microcephaly Syndrome

  • Camos

  • Scar5

  • GAMOS1

  • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

  • Microcephaly, Hiatal Hernia And Nephrotic Syndrome

  • Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

  • Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

  • Scar5, Formerly

  • Spinocerebellar Ataxia Autosomal Recessive 5

  • Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

  • Camos Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

  • Galloway-Mowat Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive, 5

  • Galloway Mowat Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive 5

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

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

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Rattus norvegicus CBS RGD RGD:2287
Mus musculus CBS MGD MGI:88285