Diseases |
Alias |
|
Phosphoribosylpyrophosphate Synthetase Superactivity |
PRPS1 SUPERACTIVITY
|
Prpp Synthetase Superactivity
|
Gout, Prps-Related
|
Prpp Synthetase Deficiency
|
Prpp Synthetase Overactivity
|
Prs Overactivity
|
Prs Superactivity
|
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
|
Mild Prpp Synthetase Superactivity
|
Mild Prps1 Superactivity
|
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
|
Severe Prpp Synthetase Superactivity
|
Severe Prps1 Superactivity
|
Prps-Related Gout
|
Superactivity, Phosphoribosylpyrophosphate Synthetase
|
|
|
Arts Syndrome |
ARTS
|
Mrxsarts
|
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision
|
Mrxs18
|
Lethal Ataxia With Deafness And Optic Atrophy
|
Fatal X-Linked Ataxia With Deafness And Loss Of Vision
|
Mental Retardation, X-Linked, Syndromic, Arts Type
|
Mental Retardation, X-Linked, Syndromic 18
|
Syndromic X-Linked Mental Retardation 18
|
Syndromic X-Linked Mental Retardation Arts Type
|
Lethal Ataxia-Deafness-Optic Atrophy
|
X-Linked Fatal Ataxia With Deafness And Loss Of Vision
|
Ataxia-Deafness-Optic Atrophy, Lethal
|
Lethal Ataxia With Hearing Loss And Optic Atrophy
|
Art
|
|
|
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
CMTX5
|
Rosenberg-Chutorian Syndrome
|
Charcot-Marie-Tooth Disease X-Linked Recessive 5
|
Optic Atrophy, Polyneuropathy, And Deafness
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5
|
Cmt5x
|
X-Linked Charcot-Marie-Tooth Disease Type 5
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
|
Optic Atrophy Polyneuropathy Deafness
|
Optic Atrophy With Polyneuropathy And Deafness
|
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
|
|
|
Deafness, X-Linked 1 |
DFNX1
|
Dfn2
|
Deafness, X-Linked 2, Sensorineural Congenital
|
X-Linked Deafness 1
|
X-Linked Sensorineural Congenital Deafness 2
|
Deafness, X-Linked, 1
|
Congenital Sensorineural Deafness X-Linked 2
|
Deafness, X-Linked, Type 1
|
|
|
Charcot-Marie-Tooth Neuropathy X Type 5 |
Cmtx5
|
Rosenberg-Chutorian Syndrome
|
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
|
|
|
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
|
X-Linked Non-Syndromic Sensorineural Deafness Type Dfn |
X-Linked Isolated Neurosensory Deafness Type Dfn
|
X-Linked Isolated Neurosensory Hearing Loss Type Dfn
|
X-Linked Isolated Sensorineural Deafness Type Dfn
|
X-Linked Isolated Sensorineural Hearing Loss Type Dfn
|
X-Linked Non-Syndromic Neurosensory Deafness Type Dfn
|
X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn
|
X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn
|
|
|
Hereditary Hearing Loss And Deafness |
|
|
Gout |
Gouty Arthritis
|
Articular Gout
|
Gouty Arthropathy
|
Arthritis, Gouty
|
Arthritis Gouty
|
Idiopathic Gout
|
Idiopathic Gout, Unspecified Site
|
Gouty Bursitis
|
Uratic Arthritis
|
Gout Nos
|
Gouty
|
Gouty Diathesis
|
|
|
Tooth Disease |
Tooth Diseases
|
Teeth Disease
|
Tooth Disorders
|
|
|
Deafness, X-Linked 2 |
Progressive Deafness With Stapes Fixation
|
DFNX2
|
Dfn3
|
Nance Deafness
|
Perilymphatic Gusher-Deafness Syndrome
|
Stapedo-Vestibular Ankylosis
|
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
|
X-Linked Deafness 2
|
X-Linked Mixed Conductive And Neurosensory Deafness
|
X-Linked Mixed Conductive And Sensorineural Deafness
|
Deafness 3 Conductive With Stapes Fixation
|
Deafness Conductive With Stapes Fixation
|
Deafness Mixed With Perilymphatic Gusher
|
Thies-Reis Syndrome
|
Deafness, Conductive, With Stapes Fixation
|
Deafness 3, Conductive, With Stapes Fixation
|
Deafness, Mixed, With Perilymphatic Gusher
|
Conductive Deafness 3 With Stapes Fixation
|
Conductive Deafness With Stapes Fixation
|
Mixed Deafness With Perilymphatic Gusher
|
X-Linked Deafness Type 2
|
X-Linked Mixed Conductive And Neurosensory Hearing Loss
|
X-Linked Mixed Conductive And Sensorineural Hearing Loss
|
X-Linked Sensorineural Deafness
|
X-Linked Stapes Gusher Syndrome
|
Deafness Mixed With Perilymphatic Gusher, X-Linked
|
Dfn 3 Nonsyndromic Hearing Loss And Deafness
|
Gusher Syndrome
|
Thies Reis Syndrome
|
Progressive Hearing Loss With Stapes Fixation
|
Deafness, X-Linked, 2
|
Deafness Mixed With Perilymph Gusher X-Linked
|
Deafness, X-Linked, Type 2
|
Progressive Hearing Loss Stapes Fixation
|
|
|
Charcot-Marie-Tooth Disease Type 5 |
Hereditary Motor And Sensory Neuropathy With Pyramidal Features
|
|
|
Charcot-Marie-Tooth Disease |
Cmt
|
Hmsn
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
Deafness, X-Linked 4 |
DFNX4
|
Dfn6
|
Deafness, Nonsyndromic Sensorineural Progressive 6
|
X-Linked Deafness 4
|
Deafness, X-Linked 6, Progressive
|
Nonsyndromic Sensorineural Progressive Deafness 6
|
X-Linked Progressive Deafness 6
|
Deafness, X-Linked, 4
|
Deafness Nonsyndromic Sensorineural Progressive 6
|
Deafness X-Linked 6 Progressive
|
Deafness, X-Linked, Type 4
|
|
|
Charcot-Marie-Tooth Disease Type X |
|
|
X-Linked Nonsyndromic Deafness |
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
Nephrolithiasis, Uric Acid |
Nephrolithiasis, Uric Acid, Susceptibility To
|
Uric Acid Urolithiasis
|
Uric Acid Nephrolithiasis
|
UAN
|
Acute Urate Nephropathy
|
Urolithiasis, Uric Acid
|
Urolithiasis, Uric Acid, Susceptibility To
|
Uric Acid Renal Calculus
|
|
|
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
CMTX2
|
Charcot-Marie-Tooth Disease X-Linked Recessive 2
|
X-Linked Charcot-Marie-Tooth Disease Type 2
|
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
|
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2
|
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
|
|
|
Deafness, X-Linked 3 |
DFNX3
|
Dfn4
|
X-Linked Deafness 3
|
Deafness, X-Linked 4, Congenital Sensorineural
|
Congenital Sensorineural X-Linked Deafness 4
|
|
|
Deafness, X-Linked 5, With Peripheral Neuropathy |
Deafness, X-Linked 5
|
DFNX5
|
Aunx1
|
Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy
|
X-Linked Deafness 5
|
X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1
|
X-Linked Hsan With Deafness
|
X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy
|
X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness
|
X-Linked Hsan With Hearing Loss
|
X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss
|
Deafness, X-Linked, 5, With Peripheral Neuropathy
|
Deafness, X-Linked, Type 5
|
|
|
Non-Syndromic X-Linked Intellectual Disability 63 |
Acsl4-Related Intellectual Disability
|
Mrx63
|
Mrx68
|
X-Linked Mental Retardation 68
|
|
|
Hyperuricemia |
Blood Urate Raized
|
Uricacidemia
|
|
|
Cataract 40 |
CTRCT40
|
Cataract 40 With Or Without Microcornea
|
Cct
|
Cataract, Congenital, X-Linked
|
Cataract 40, X-Linked
|
Cataract, Congenital, With Microcornea Or Slight Microphthalmia
|
Cxn
|
Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
|
Cataract 40 X-Linked
|
Cataract Congenital X-Linked
|
Cataract, Total Congenital
|
Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
|
Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes
|
X-Linked Congenital Cataract
|
Cataract, Type 40
|
|
|
Neuropathy |
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
Urolithiasis |
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|
Syndromic X-Linked Intellectual Disability |
X-Linked Syndromic Intellectual Disability
|
|
|
Non-Syndromic X-Linked Intellectual Disability 30 |
Mrx30
|
Mrx47
|
X-Linked Mental Retardation 30/47
|
X-Linked Mental Retardation 47
|
Mental Retardation, X-Linked, Type 30/47
|
|
|
Deafness, X-Linked 7 |
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome
|
DFNX7
|
X-Linked Deafness 7
|
Deafness, X-Linked, 7
|
|
|
Childhood B-Cell Acute Lymphoblastic Leukemia |
B-Cell Childhood Acute Lymphoblastic Leukemia
|
|
|
Sensorineural Hearing Loss |
Sensory Hearing Loss
|
Sensorineural Deafness
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
Charcot-Marie-Tooth Disease And Deafness |
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
Syndromic Intellectual Disability |
|
|
Lesch-Nyhan Syndrome |
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
LNS
|
Hprt Deficiency
|
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
|
X-Linked Hyperuricemia
|
Choreoathetosis Self-Mutilation Syndrome
|
Hprt1 Deficiency
|
Hprt Deficiency, Complete
|
Deficiency Of Imp Pyrophosphorylase
|
Hgprt Deficiency
|
Lesch-Nyhan Disease
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
|
Hg-Prt Deficiency
|
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency
|
Lesch - Nyhan Syndrome
|
Hprt1 Disorders
|
Lesch Nyhan Syndrome
|
Complete Hprt Deficiency Complete
|
Lesch Nyhan Disease
|
Complete Hprt Deficiency
|
Deficiency Of Guanine Phosphoribosyltransferase
|
Deficiency Of Hypoxanthine Phosphoribosyltransferase
|
Hypoxanthine Phosphoribosyltransferase Deficiency
|
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
|
Juvenile Hyperuricemia Syndrome
|
Lnd
|
Primary Hyperuricemia Syndrome
|
Total Hprt Deficiency
|
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
|
X-Linked Primary Hyperuricemia
|
X-Linked Uric Aciduria Enzyme Defect
|
Hprt Complete Deficiency
|
Hprt Deficiency Grade Iv
|
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
|
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency
|
Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
|
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
|
|
|
Hyperuricemia, Hprt-Related |
Hprt-Related Gout
|
Kelley-Seegmiller Syndrome
|
Hprt Deficiency, Partial
|
HRH
|
Gout, Hprt-Related
|
Hprt1 Deficiency, Partial
|
Hrpt-Related Hyperuricemia
|
Hprt Deficiency, Grade I
|
Hprt Partial Deficiency
|
Hprt-Related Hyperuricemia
|
Hprt1 Partial Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I
|
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
|
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
|
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
|
Hyperuricemia, Hrpt-Related
|
|
|
Purine-Pyrimidine Metabolic Disorder |
Inborn Errors Of Purine-Pyrimidine Metabolism
|
Disorder Of Purine Or Pyrimidine Metabolism
|
|
|
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
Cmt4x
|
Cmtx4
|
Cowchock Syndrome
|
X-Linked Charcot-Marie-Tooth Disease Type 4
|
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation
|
Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
|
Nadmr
|
Namsd
|
|
|
Retinal Degeneration |
|
|
Opitz-Kaveggia Syndrome |
Fg Syndrome
|
Fgs1
|
Fgs
|
Keller Syndrome
|
OKS
|
Fg Syndrome 1
|
Fg Syndrome Type 1
|
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
|
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
|
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
|
|
|
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
|
|
|
Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
|