| Diseases |
Alias |
|
| Digeorge Syndrome |
|
Chromosome 22q11.2 Deletion Syndrome
|
DGS
|
|
Hypoplasia Of Thymus And Parathyroids
|
Third And Fourth Pharyngeal Pouch Syndrome
|
|
22q11.2 Deletion Syndrome
|
Digeorge Sequence
|
|
Digeorge'S Syndrome
|
Pharyngeal Pouch Syndrome
|
|
Di-George Syndrome
|
Shprintzen Syndrome
|
|
|
| Velocardiofacial Syndrome |
|
Shprintzen Syndrome
|
VCFS
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
|
Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
|
Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
|
22q11 Deletion Syndrome
|
Conotruncal Anomaly Face Syndrome
|
|
|
| Lung Cancer Susceptibility 3 |
|
Lung Adenocarcinoma
|
Adenocarcinoma Of Lung
|
|
LNCR3
|
Adenocarcinoma Of Lung, Susceptibility To
|
|
Bronchogenic Lung Adenocarcinoma
|
Nonsmall Cell Adenocarcinoma
|
|
Adenocarcinoma Lung
|
Lung Adenocarcinomas
|
|
Non-Small Cell Adenocarcinoma
|
|
|
| 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
|
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
Renal Cell Carcinoma
|
RCC
|
|
Nonpapillary Renal Cell Carcinoma
|
Clear Cell Renal Cell Carcinoma
|
|
Hypernephroma
|
Adenocarcinoma Of Kidney
|
|
Renal Carcinoma, Chromophobe, Somatic
|
Clear Cell Carcinoma Of Kidney
|
|
Clear-Cell Metastatic Renal Cell Carcinoma
|
Clear Cell Renal Carcinoma
|
|
Renal Cell Carcinoma, Somatic
|
Conventional Renal Cell Carcinoma
|
|
Conventional Renal Cell Carcinoma
|
Renal Clear Cell Carcinoma
|
|
Ccrcc
|
Hereditary Clear Cell Renal Cell Carcinoma
|
|
Carcinoma, Renal Cell
|
Renal Cell Carcinoma, Clear Cell, Somatic
|
|
Renal Cell Carcinoma, Clear Cell
|
Clear Cell Kidney Carcinoma
|
|
Clear Cell Rcc
|
Cystic-Multilocular Variant
|
|
Clear Cell Renal Cell Adenocarcinoma
|
Hereditary Clear Cell Renal Cell Adenocarcinoma
|
|
Common Renal Cell Carcinoma
|
Crcc
|
|
Renal Cell Carcinoma Non-Papillary
|
Carcinoma Renal Cell
|
|
Renal Cell Cancer
|
Carcinoma, Renal Cell, Nonpapillary
|
|
|
| Glioblastoma |
|
Glioblastoma Multiforme
|
Gbm
|
|
Adult Glioblastoma Multiforme
|
Grade Iv Adult Astrocytic Tumor
|
|
Primary Glioblastoma Multiforme
|
Spongioblastoma Multiforme
|
|
Adult Glioblastoma
|
Primary Glioblastoma
|
|
|
| Hepatocellular Carcinoma |
|
Liver Cancer
|
Primary Liver Cancer
|
|
HCC
|
Hepatoma
|
|
Malignant Neoplasm Of Liver
|
Liver Neoplasms
|
|
Cancer, Hepatocellular
|
Liver Cell Carcinoma
|
|
Lcc
|
Hepatoblastoma, Somatic
|
|
Hepatic Cancer
|
Primary Malignant Neoplasm Of Liver
|
|
Rare Tumor Of Liver And Intrahepatic Biliary Tract
|
Hepatocellular Carcinoma, Somatic
|
|
Hepatocellular Carcinoma, Childhood Type, Somatic
|
Hepatocellular Cancer, Somatic
|
|
Ca Liver - Primary
|
Hepatic Neoplasm
|
|
Malignant Hepato-Biliary Neoplasm
|
Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
|
|
Malignant Neoplasm Of Liver, Primary
|
Malignant Tumor Of Liver
|
|
Neoplasm Of Liver
|
Non-Resectable Primary Hepatic Malignant Neoplasm
|
|
Resectable Malignant Neoplasm Of Liver
|
Resectable Malignant Neoplasm Of The Liver
|
|
Primary Liver Carcinoma
|
Primary Malignant Liver Neoplasm
|
|
Primary Cancer Of Liver
|
Primary Tumor Of The Liver
|
|
Rare Tumor Of Liver And Ibt
|
Hepatocellular Cancer
|
|
Neoplasm Of The Liver
|
Carcinoma, Hepatocellular
|
|
Hepatomas
|
Liver Neoplasm
|
|
Liver Carcinoma
|
Liver And Intrahepatic Biliary Tract Carcinoma
|
|
Malignant Hepatobiliary Neoplasm
|
Adult Primary Hepatocellular Carcinoma
|
|
Hepatoblastoma
|
Carcinoma Of Liver
|
|
Malignant Liver Tumour
|
Malignant Hepatic Tumour
|
|
|
| Glioma Susceptibility 1 |
|
Astrocytoma
|
GLM1
|
|
Glioma, Susceptibility To, Somatic
|
Glioblastoma, Somatic
|
|
Glioma
|
Glioblastoma Multiforme
|
|
Oligodendroglioma
|
Glioma Somatic
|
|
Astrocytic Tumor
|
GLM
|
|
Familial Glioma Of Brain
|
Gbm
|
|
Glioma 1
|
Glioma, Susceptibility, Type 1
|
|
Cerebral Astrocytoma
|
Glioblastoma
|
|
Well Differentiated Oligodendroglioma
|
|
|
| Lung Cancer |
|
Lung Carcinoma
|
Non-Small Cell Lung Carcinoma
|
|
Lung Cancer, Susceptibility To
|
Lung Cancer, Protection Against
|
|
Adenocarcinoma Of Lung, Somatic
|
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
|
|
Nonsmall Cell Lung Cancer
|
Lung Neoplasm
|
|
Carcinoma Of Lung
|
Lung Non-Small Cell Carcinoma
|
|
Non-Small Cell Lung Cancer
|
Nsclc
|
|
Lung Neoplasms
|
Malignant Neoplasm Of Lung
|
|
Alveolar Cell Carcinoma
|
Nonsmall Cell Lung Cancer, Somatic
|
|
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In
|
Nonsmall Cell Lung Cancer, Susceptibility To
|
|
Lung Cancer, Somatic
|
Lung Cancer, Resistance To
|
|
Cancer Of Lung
|
Cancer Of Bronchus
|
|
Cancer Of The Lung
|
Lung Malignancies
|
|
Lung Malignant Tumors
|
Malignant Lung Tumor
|
|
Malignant Tumor Of Lung
|
Pulmonary Cancer
|
|
Pulmonary Carcinoma
|
Pulmonary Neoplasms
|
|
Respiratory Carcinoma
|
LNCR
|
|
Adenocarcinoma Of Lung
|
Neoplasm Of Lung
|
|
Cancer Lung
|
Carcinoma Non-Small Cell Lung
|
|
Carcinoma, Non-Small-Cell Lung
|
Lung Cancers
|
|
Lung Carcinomas
|
Cancer, Lung
|
|
Cancer, Lung, Non-Small Cell
|
Primary Malignant Neoplasm Of Lung
|
|
Bronchioloalveolar Adenocarcinoma
|
|
|
| Chromosomal Deletion Syndrome |
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Monocyte, Dendritic Cell, And Nk Cell Deficiency |
|
|
| Central Nervous System Benign Neoplasm |
|
Benign Neoplasm Of The Central Nervous System
|
|
|
| Hyperprolinemia, Type I |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
HYRPRO1
|
Hpi
|
|
Hyperprolinemia Type I
|
Hyperprolinemia 1
|
|
Proline Dehydrogenase Deficiency
|
|
|
| Immunodeficiency 32b |
|
IMD32B
|
Immunodeficiency 32b, Monocyte And Dendritic Cell Deficiency, Autosomal Recessive
|
|
Immunodeficiency 32b, Monocyte, Dendritic Cell, And Natural Killer Cell Deficiency, Autosomal Recessive
|
Irf8 Deficiency, Autosomal Recessive
|
|
Epstein-Barr Virus Chronic Infection By
|
Epstein-Barr Virus, Susceptibility To Chronic Infection By
|
|
Autosomal Recessive Irf8 Deficiency
|
Chronic Epstein-Barr Virus Infection Syndrome
|
|
Caebv Syndrome
|
Chronic Ebv Infection Syndrome
|
|
Autosomal Recessive Monocyte And Dendritic Cell Deficiency
|
Immunodeficiency, Type 32b
|
|
Monocyte And Dendritic Cell Deficiency, Autosomal Recessive
|
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Retinitis Pigmentosa 11 |
|
RP11
|
Retinitis Pigmentosa-11
|
|
Retinitis Pigmentosa, Type 11
|
|
|
| Koolen-De Vries Syndrome |
|
KDVS
|
17q21.31 Microdeletion Syndrome
|
|
Microdeletion 17q21.31 Syndrome
|
Chromosome 17q21.31 Deletion Syndrome
|
|
Koolen De Vries Syndrome
|
Kansl1-Related Intellectual Disability Syndrome
|
|
Chromosome 17q21.31 Microdeletion Syndrome
|
Monosomy 17q21.31
|
|
17q21.31 Deletion Syndrome
|
Koolen Syndrome
|
|
Del(17)(Q21.31)
|
|
|
| Brain Glioma |
|
Lower Grade Glioma
|
Intracranial Glioma
|
|
Glioma Nos
|
|
|
| Hyperprolinemia |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
Proline Hydrogenase Deficiency
|
Prolinemia
|
|
Pyrroline Carboxylate Dehydrogenase Deficiency
|
Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Proline Dehydrogenase Deficiency
|
Hyperprolinemia Type 2
|
|
|
| Chromosome 22q11.2 Duplication Syndrome |
|
Chromosome 22q11.2 Microduplication Syndrome
|
22q11.2 Microduplication Syndrome
|
|
22q11.2 Duplication Syndrome
|
Duplication 22q11.2
|
|
Trisomy 22q11.2
|
22q11.2 Duplication
|
|
Dup(22)(Q11)
|
|
|
| Tatton-Brown-Rahman Syndrome |
|
TBRS
|
Dnmt3a Overgrowth Syndrome
|
|
Tatton-Brown-Rahman Overgrowth Syndrome
|
Dos
|
|
Dnmt3a-Related Overgrowth Syndrome
|
Doid:0112339
|
|
Dose
|
|
|
| Intracranial Abscess |
|
Abscess Of Brain
|
Brain Empyema
|
|
Cranial Abscess
|
Intracerebral Abscess
|
|
Cerebral Abscess
|
Cerebral Embolic Abscess
|
|
Cerebral Pyogenic Abscess
|
Septic Brain Infection
|
|
Temporosphenoidal Abscess
|
Ventricular Empyema
|
|
Intracranial Suppuration
|
Intracranial Vein Sinus Abscess
|
|
|
| Physical Disorder |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
|
Chromosome 22q11.2 Deletion Syndrome Distal
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Deletion 22q11.2 Syndrome
|
|
22q11ds
|
Catch 22
|
|
Digeorge Sequence
|
Microdeletion 22q11.2
|
|
Monosomy 22q11
|
Takao Syndrome
|
|
Distal Del(22)(Q11.2)
|
Distal Monosomy 22q11.2
|
|
Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| Spinal Disease |
|
Spinal Disorder
|
Spinal Diseases
|
|
|
| Malignant Astrocytoma |
|
Astrocytic Tumor
|
Astrocytoma Of Brain
|
|
Astrocytoma Of Cerebrum
|
Astroglioma
|
|
Cerebral Astrocytoma
|
Astrocytoma
|
|
|
| Central Nervous System Cancer |
|
Central Nervous System Tumor
|
Central Nervous System Tumors
|
|
Cns Neoplasm
|
Malignant Neoplasm Of Central Nervous System
|
|
Malignant Tumor Of Cns
|
Neoplasm Of Central Nervous System
|
|
Malignant Neoplasm Of The Central Nervous System
|
Neoplasm Of The Central Nervous System
|
|
Central Nervous System Neoplasms
|
Central Nervous System Neoplasm
|
|
|
| Orofacial Cleft |
|
|
| Connective Tissue Cancer |
|
Neoplasms, Connective Tissue
|
Connective Tissue Neoplasm
|
|
Mesenchymal Tissue Malignant Neoplasm
|
Neoplasm Of Connective Tissues
|
|
Tumour Of Connective Tissue
|
|
|
| Bone Cancer |
|
Malignant Bone Neoplasm
|
Bone Carcinoma
|
|
Bone Neoplasms
|
Bone Neoplasm
|
|
Bone Tumour
|
Ca - Bone Cancer
|
|
Malignant Bone Tumour
|
Malignant Neoplasm Of Bone
|
|
Malignant Osseous Tumor
|
Neoplasm Of Bone
|
|
Osseous Tumor
|
Osteosarcoma Of Bone
|
|
Osteogenic Neoplasm
|
|
|
| Wolf-Hirschhorn Syndrome |
|
Pitt-Rogers-Danks Syndrome
|
WHS
|
|
Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
|
4p- Syndrome
|
Pitt Syndrome
|
|
4p Deletion Syndrome
|
Distal Deletion 4p
|
|
Distal Monosomy 4p
|
Telomeric Deletion 4p
|
|
Prds
|
4p Syndrome
|
|
Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
|
Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
|
Chromosome 4p Monosomy
|
Del Syndrome
|
|
Monosomy 4p
|
Partial Monosomy 4p
|
|
Chromosome 4 Short Arm Deletion
|
|
|
| Eye Degenerative Disease |
|
|
| Phelan-Mcdermid Syndrome |
|
Chromosome 22q13.3 Deletion Syndrome
|
22q13.3 Deletion Syndrome
|
|
Telomeric 22q13 Monosomy Syndrome
|
PHMDS
|
|
Deletion 22q13 Syndrome
|
22q13.3 Deletion
|
|
Deletion 22q13.3 Syndrome
|
Monosomy 22q13
|
|
Monosomy 22q13.3
|
22q13 Deletion Syndrome
|
|
Monosomy 22q13 Syndrome
|
22q13 Deletion
|
|
Chromosome Deletion
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Uterine Corpus Cancer |
|
Corpus Uteri Cancer
|
Malignant Uterine Corpus Neoplasm
|
|
|
| Low Grade Glioma |
|
|
| Brain Cancer |
|
Adult Brain Tumor
|
Malignant Neoplasm Of Brain
|
|
Brain Neoplasms
|
Brain Neoplasm
|
|
Neoplasm Of Brain
|
Primary Malignant Neoplasm Of Brain
|
|
Brain Tumors
|
Adult Malignant Brain Neoplasm
|
|
Brain Neoplasm, Adult
|
Bt - Brain Tumour
|
|
Malignant Brain Tumour
|
Malignant Primary Brain Neoplasm
|
|
Malignant Primary Brain Tumor
|
Malignant Tumor Of Adult Brain
|
|
Malignant Tumor Of Brain
|
Primary Brain Neoplasm
|
|
Primary Brain Tumor
|
Tumor Of The Brain
|
|
Brain Tumor, Adult
|
Brain Tumor Primary
|
|
Malignant Primary Brain Tumors
|
Primary Brain Tumors
|
|
Cancer, Brain
|
Brain Tumor, Primary
|
|
|
| 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
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| 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]
|
|
|
| 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
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
