Diseases |
Alias |
|
Ayme-Gripp Syndrome |
AYGRP
|
Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
|
Aymé-Gripp Syndrome
|
Fine-Lubinsky Syndrome
|
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome
|
Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
|
|
|
Cataract 21, Multiple Types |
Cataract 21 Multiple Types
|
CTRCT21
|
Cca4
|
Cataract 21, Multiple Types, With Or Without Microcornea
|
Cataract, Pulverulent, Juvenile-Onset
|
Congenital Cataract Cerulean Type 4
|
Cataract, Congenital, Cerulean Type, 4
|
Cataract 21 Multiple Types With Or Without Microcornea
|
Cataract, Pulverulent Or Cerulean, With Or Without Microcornea
|
Cataract Pulverulent Juvenile-Onset
|
Congenital Cataract Blue Dot Type 4
|
Cataract, Type 21, Multiple Types
|
|
|
Developmental And Epileptic Encephalopathy 28 |
DEE28
|
Epileptic Encephalopathy, Early Infantile, 28
|
Eiee28
|
Developmental And Epileptic Encephalopathy, 28
|
Early Infantile Epileptic Encephalopathy 28
|
Encephalopathy, Epileptic, Early Infantile, Type 28
|
|
|
Spinocerebellar Ataxia, Autosomal Recessive 12 |
Autosomal Recessive Spinocerebellar Ataxia 12
|
SCAR12
|
Spinocerebellar Ataxia With Mental Retardation And Epilepsy
|
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
|
Autosomal Recessive Spinocerebellar Ataxia Type 12
|
Spinocerebellar Ataxia, Autosomal Recessive, 12
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12
|
|
|
Cataract 7 |
Cca1
|
CTRCT7
|
Cerulean Cataract
|
Cataract 7, Cerulean Type
|
Cataract, Congenital, Cerulean Type, 1
|
Cerulean Type Cataract 7
|
Congenital Cerulean Type Cataract 1
|
Cataract, Congenital, Blue Dot Type 1
|
Cataract, Congenital, Cerulean Type 1
|
Blue-Dot Cataract
|
|
|
Developmental And Epileptic Encephalopathy 1 |
Epileptic Encephalopathy, Early Infantile, 1
|
Infantile Epileptic-Dyskinetic Encephalopathy
|
DEE1
|
Eiee1
|
Issx1
|
Xmesid
|
X-Linked Infantile Spasm Syndrome 1
|
X-Linked Infantile Spasm Syndrome
|
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
|
Developmental And Epileptic Encephalopathy, 1
|
Infantile Epileptic Dyskinetic Encephalopathy
|
Infantile Spasm Syndrome, X-Linked 1
|
West Syndrome, X-Linked
|
Ohtahara Syndrome, X-Linked
|
Early Infantile Epileptic Encephalopathy 1
|
Early Infantile Epileptic Encephalopathy-1
|
Issx
|
X-Linked Ohtahara Syndrome
|
X-Linked West Syndrome
|
Infantile Spasm Syndrome X-Linked 1
|
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity
|
Ohtahara Syndrome X-Linked
|
West Syndrome X-Linked
|
Encephalopathy, Epileptic, Early Infantile, Type 1
|
|
|
Cataract Microcornea Syndrome |
Microcornea Cataract Syndrome
|
Cataract-Microcornea Syndrome
|
|
|
Cataract 30, Multiple Types |
CTRCT30
|
Cataract 30, Pulverulent
|
Pulverulent Cataract
|
Coppock-Like Cataract
|
Dusty Cataract
|
Pulverulent Cataract 30
|
Cataract 30
|
Cataract, Pulverulent
|
|
|
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
|
|
|
Benign Epilepsy With Centrotemporal Spikes |
Rolandic Epilepsy
|
Benign Rolandic Epilepsy
|
Epilepsy, Rolandic
|
Bcects
|
Benign Childhood Epilepsy With Centrotemporal Spike
|
Sylvan Seizures
|
Becrs
|
Bects
|
Bre
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
Benign Familial Epilepsy Of Childhood With Rolandic Spikes
|
Centrotemporal Epilepsy
|
|
|
Fibrosarcoma |
Neoplasms, Fibrous Tissue
|
Fibrocytic Tumor
|
Fibrosarcoma Of Soft Tissue
|
Fibrous Tissue Neoplasm
|
|
|
Plasma Cell Leukemia |
Plasma Cell Leukaemia
|
Leukemia, Plasma Cell
|
Plasmacytic Leukaemia
|
Plasmacytic Leukemia
|
Pcl
|
Plasma Cell Leukaemia, Nos
|
Leukemic Plasma Cell
|
Plasma Cell Leukaemia Without Mention Of Remission
|
|
|
Cataract |
Cataracts
|
Cat - [Cataract]
|
Cataract Form
|
Lens Opacity
|
Lens Opacities
|
|
|
Nephrogenic Adenofibroma |
|
|
Erythroleukemia |
|
|
Slate Pneumoconiosis |
|
|
Multicentric Carpotarsal Osteolysis Syndrome |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
|
MCTO
|
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
|
Idiopathic Multicentric Osteolysis With Or Without Nephropathy
|
Autosomal Dominant Multicentric Osteolysis
|
Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy
|
Multicentric Osteolysis, Autosomal Dominant
|
Multicentric Osteolysis Nephropathy
|
Osteolysis, Carpotarsal, Multicentric Syndrome
|
Lytic Lesion
|
|
|
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
Multiple Epiphyseal Dysplasia, Beighton Type
|
EDMMD
|
Epiphyseal Dysplasia, Multiple, With Myopia And Deafness
|
Multiple Epiphyseal Dysplasia With Myopia And Deafness
|
Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome
|
Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome
|
Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness
|
Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness
|
|
|
Monoclonal Gammopathy Of Uncertain Significance |
Monoclonal Gammopathy Of Undetermined Significance
|
Mgus
|
Mgus - [Monoclonal Gammopathy Of Undetermined Significance]
|
Monoclonal Gammopathy Nos
|
Iga Gammopathy
|
Monoclonal Gammoglobulinopathy
|
|
|
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
|
Non-Syndromic X-Linked Intellectual Disability Arx-Related |
Arx-Related Intellectual Disability
|
Mrxarx
|
X-Linked Mental Retardation 29
|
X-Linked Mental Retardation 29 And Others
|
X-Linked Mental Retardation 32
|
X-Linked Mental Retardation 33
|
X-Linked Mental Retardation 38
|
X-Linked Mental Retardation 43
|
X-Linked Mental Retardation 76
|
X-Linked Mental Retardation 87
|
X-Linked Mental Retardation With Or Without Seizures Arx-Related
|
Mental Retardation, X-Linked, Type 29 And Others
|
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
Ibmpfd2
|
Msp2
|
Multisystem Proteinopathy 2
|
|
|
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
Combined Oxidative Phosphorylation Deficiency 26
|
COXPD26
|
Combined Oxidative Phosphorylation Defect Type 26
|
PNSED
|
Oxidative Phosphorylation Deficiency, Combined, Type 26
|
|
|
Blood Protein Disease |
Blood Protein Disorders
|
Blood Protein Disorder
|
|
|
Myopia |
Near-Sightedness
|
Short-Sightedness
|
Nearsightedness
|
Nearsighted
|
Near Vision
|
Close Sighted
|
Myopic
|
Short-Sighted
|
Near Sighted
|
|
|
Smoldering Myeloma |
|
|
Schindler Disease, Type I |
Schindler Disease Type 1
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
|
Schindler Disease Type 3
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
|
Naga Deficiency Type 3
|
Neuroaxonal Dystrophy, Schindler Type
|
Naga Deficiency Type 1
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type I
|
Naga Deficiency, Type I
|
Schindler Disease, Type Iii
|
N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type 1
|
Naga Deficiency, Type 1
|
Schindler Disease Type I
|
Schindler Disease
|
SCHIND
|
Schindler Disease, Type 3
|
Schindler Disease, Type 1
|
|
|
Pfeiffer Syndrome |
Infectious Mononucleosis
|
Acs5
|
Craniofacial-Skeletal-Dermatologic Dysplasia
|
Acs V
|
Noack Syndrome
|
Gammaherpesviral Mononucleosis
|
Acrocephalosyndactyly Type 5
|
Pfeiffer Syndrome Type 3
|
Acrocephalosyndactyly, Type V
|
Glandular Fever
|
Pfeiffer Type Acrocephalosyndactyly
|
Pfeiffer Syndrome Type 2
|
Acrocephalosyndactylia Type V
|
Filatov'S Disease
|
Monocytic Angina
|
Mononucleosis
|
Pfeiffer'S Disease
|
Acsv
|
Acrocephalosyndactyly, Type 5
|
Craniofacial-Skeletal-Dermatologic Syndrome
|
Pfeiffer Syndrome Type 1
|
Classic Pfeiffer Syndrome
|
PS
|
Pfeiffer Syndrome Variant
|
Dysplasia, Craniofacial-Skeletal-Dermatologic
|
Pfeiffer
|
Kissing Disease
|
Infectious Adenitis
|
Pfeiffer Disease
|
|
|
Myasthenic Syndrome, Congenital, 3a, Slow-Channel |
Congenital Myasthenic Syndrome 3a
|
CMS3A
|
Congenital Myasthenic Syndrome 3a, Slow-Channel
|
Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel
|
|
|
Idiopathic Peripheral Autonomic Neuropathy |
|
|
Anterior Segment Dysgenesis |
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
Asmd
|
Asod
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
|
Inflammatory Bowel Disease |
Inflammatory Bowel Diseases
|
Bowel Disease, Inflammatory
|
|
|
Ciliary Dyskinesia, Primary, 43 |
CILD43
|
Primary Ciliary Dyskinesia 43
|
Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus
|
Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus
|
Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus
|
|
|
Arthrogryposis, Distal, Type 2b3 |
DA2B3
|
Distal Arthrogryposis Type 2b3
|
Arthrogryposis, Distal, 2b3
|
|
|
Corneal Dystrophy, Posterior Polymorphous, 4 |
PPCD4
|
Posterior Polymorphous Corneal Dystrophy 4
|
|
|
Spinocerebellar Ataxia 44 |
|
|
Larsen-Like Syndrome B3gat3 Type |
Larsen-Like Syndrome, B3gat3 Type
|
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
|
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects
|
Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects
|
|
|
Deafness, Autosomal Dominant 4a |
Deafness, Autosomal Dominant 4
|
DFNA4A
|
Dfna4
|
Autosomal Dominant Nonsyndromic Deafness 4a
|
Autosomal Dominant Deafness 4a
|
Deafness, Autosomal Dominant, 4a
|
Deafness Autosomal Dominant 4
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4
|
Deafness, Autosomal Dominant, Type 4a
|
|
|
Immunodeficiency 58 |
IMD58
|
Severe Combined Immunodeficiency Due To Carmil2 Deficiency
|
Combined Immunodeficiency Due To Carmil2 Deficiency
|
Combined Immunodeficiency Due To Rltpr Deficiency
|
|
|
Ciliary Dyskinesia, Primary, 4 |
Primary Ciliary Dyskinesia 4
|
CILD4
|
Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus
|
Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus
|
Primary Ciliary Dyskinesia, 4
|
|
|
Ciliary Dyskinesia, Primary, 8 |
Primary Ciliary Dyskinesia 8
|
CILD8
|
Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus
|
Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus
|
|
|
Aniridia 1 |
Aniridia
|
Congenital Aniridia
|
AN1
|
An
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
Absent Iris
|
Irideremia
|
Aniridia Ii, Formerly
|
An2, Formerly
|
An2
|
Aniridia Type Ii
|
Aniridia, Type 1
|
An-1
|
Absence Of Iris
|
Agenesis Of Iris
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
Sporadic Aniridia
|
|
|
Hereditary Spastic Paraplegia 51 |
Autosomal Dominant Spastic Paraplegia 51
|
Cpsq4
|
Spastic Quadriplegic Cerebral Palsy 4
|
Spg51
|
Spastic Paraplegia 51, Autosomal Recessive
|
|
|
Coloboma Of Macula |
Coloboma
|
Congenital Ocular Coloboma
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
Coloboma Of Eye
|
Macular Coloboma
|
Uveoretinal Coloboma
|
|
|
Chromophobe Renal Cell Carcinoma |
Chromophobe Adenocarcinoma
|
Chromophobe Carcinoma Of Kidney
|
Kidney Chromophobe
|
Renal Cell Carcinoma, Chromophobe Cell
|
Crcc
|
Chrcc
|
Chromophobe Renal Cell Adenocarcinoma
|
Chromophobe Renal Carcinoma
|
Chromophobe Carcinoma
|
|
|
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
|
|
|
Parkinson Disease, Late-Onset |
Parkinson Disease
|
Parkinson'S Disease
|
PD
|
PARK
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
Parkinson Disease Nos
|
Parkinson, Nos
|
Primary Parkinson Disease
|
|
|
Maturity-Onset Diabetes Of The Young |
MODY
|
Maturity Onset Diabetes Mellitus In Young
|
Mason-Type Diabetes
|
Mason Type Diabetes
|
Maturity Onset Diabetes Of The Young
|
Mody Syndrome
|
Diabetes Of The Young, Maturity-Onset
|
|
|
Attention Deficit-Hyperactivity Disorder |
Attention Deficit Hyperactivity Disorder
|
ADHD
|
Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
Add
|
Addh
|
Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
|
Celiac Disease 1 |
Celiac Disease
|
Coeliac Disease
|
Celiac Sprue
|
Celiac Disease, Susceptibility To
|
Gluten-Sensitive Enteropathy
|
Nontropical Sprue
|
Sprue
|
CELIAC1
|
Celiac Disease, Susceptibility To, 1
|
Celiac Sprue 1
|
Celiac Sprue, Susceptibility To, 1
|
Gluten-Sensitive Enteropathy 1
|
Gluten-Sensitive Enteropathy, Susceptibility To, 1
|
Idiopathic Steatorrhea
|
Cœliac Disease
|
Gluten Intolerance
|
Gluten-Induced Enteropathy
|
Gluten Enteropathy
|
Celiac Disease, Susceptibility To, Type 1
|
Childhood Celiac Disease
|
Coeliac Rickets
|
Gee Disease
|
Gee-Herter Disease
|
Heubner-Herter Disease
|
Idiopathic Steatorrhoea
|
Thaysen'S Disease
|
Herter Gee Syndrome
|
|
|
Hereditary Breast Ovarian Cancer Syndrome |
Hereditary Breast And Ovarian Cancer Syndrome
|
Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
Breast And/Or Ovarian Cancer
|
Breast And Ovarian Cancer Syndrome
|
Hboc Syndrome
|
Hereditary Breast And Ovarian Cancer
|
Brca1- Brca2-Associated Hboc
|
|
|
Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|
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
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
Cone-Rod Dystrophy 2 |
Cone-Rod Dystrophy
|
CORD2
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
Cord
|
Crd
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
Progressive Cone-Rod Dystrophy
|
|
|