| Diseases |
Alias |
|
| Deafness, Autosomal Recessive 9 |
|
Auditory Neuropathy, Autosomal Recessive, 1
|
Neurosensory Nonsyndromic Recessive Deafness 9
|
|
DFNB9
|
Nsrd9
|
|
Autosomal Recessive Nonsyndromic Deafness 9
|
Autosomal Recessive Deafness 9
|
|
Nrsd9
|
AUNB1
|
|
Nonsyndromic Auditory Neuropathy Autosomal Recessive
|
Nsran
|
|
Deafness, Autosomal Recessive, 9
|
Deafness Neurosensory Autosomal Recessive 9
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9
|
Non-Syndromic Recessive Hearing Loss 9
|
|
Deafness, Autosomal Recessive, Type 9
|
Auditory Neuropathy, Nonsyndromic Recessive
|
|
|
| Otof-Related Deafness |
|
Dfnb9
|
Dfnb9 Nonsyndromic Hearing Loss
|
|
Deafness, Autosomal Recessive 9
|
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
|
|
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
|
Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
|
|
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
|
|
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
|
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| Ear Malformation |
|
|
| Nonsyndromic Hearing Loss |
|
Nonsyndromic Deafness
|
Nonsyndromic Hearing Impairment
|
|
Nonsyndromic Hearing Loss And Deafness
|
Deafness, Nonsyndromic
|
|
Isolated Deafness
|
|
|
| Deafness, Autosomal Recessive |
|
|
| Non-Syndromic Genetic Deafness |
|
Nonsyndromic Genetic Hearing Loss
|
Isolated Genetic Deafness
|
|
Isolated Genetic Hearing Loss
|
Non-Syndromic Genetic Hearing Loss
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged Vestibular Aqueduct
|
DFNB4
|
|
Neurosensory Nonsyndromic Recessive Deafness 4
|
Enlarged Vestibular Aqueduct Syndrome
|
|
Nsrd4
|
Autosomal Recessive Nonsyndromic Deafness 4
|
|
Dilated Vestibular Aqueduct
|
Dva
|
|
Enlarged Vestibular Aqueduct, Digenic
|
Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
|
|
Large Vestibular Aqueduct Syndrome
|
Deafness, Autosomal Recessive, 4
|
|
Deafness Neurosensory Autosomal Recessive 4
|
Eva
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
|
|
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
|
|
|
| Dfnb1 |
|
Gjb2-Related Deafness
|
Connexin 26 Deafness
|
|
Deafness Nonsyndromic, Connexin 26 Linked
|
|
|
| Deafness, Autosomal Dominant 25 |
|
DFNA25
|
Autosomal Dominant Nonsyndromic Deafness 25
|
|
Autosomal Dominant Deafness 25
|
Deafness, Autosomal Dominant, 25
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25
|
|
Deafness, Autosomal Dominant, Type 25
|
|
|
| Deafness, Autosomal Recessive 59 |
|
DFNB59
|
Autosomal Recessive Nonsyndromic Deafness 59
|
|
Autosomal Recessive Deafness 59
|
Deafness, Autosomal Recessive, 59
|
|
Dfnb59 Auditory Neuropathy
|
Deafness, Autosomal Recessive, Type 59
|
|
|
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Autosomal Dominant Auditory Neuropathy 1
|
AUNA1
|
|
Nsdan
|
Auditory Neuropathy, Autosomal Dominant, 1
|
|
Auditory Neuropathy, Nonsyndromic Dominant
|
Nonsyndromic Dominant Auditory Neuropathy
|
|
Nonsyndromic Auditory Neuropathy Autosomal Dominant
|
|
|
| Deafness, Autosomal Recessive 85 |
|
DFNB85
|
Autosomal Recessive Nonsyndromic Deafness 85
|
|
Autosomal Recessive Deafness 85
|
|
|
| Immunoglobulin Heavy-And-Light Chain |
|
Ah/Al Amyloidosis
|
Ig Heavy-And-Light-Chain Amyloidosis
|
|
|
| Deafness, Autosomal Recessive 16 |
|
DFNB16
|
Autosomal Recessive Nonsyndromic Deafness 16
|
|
Autosomal Recessive Deafness 16
|
Deafness, Autosomal Recessive, 16
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16
|
|
Deafness, Autosomal Recessive, Type 16
|
|
|
| Autosomal Recessive Nonsyndromic Deafness 3 |
|
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
|
Dfnb3
|
|
Nrsd3
|
Deafness, Autosomal Recessive 3
|
|
|
| Y-Linked Deafness |
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Deafness, Autosomal Recessive 1a |
|
DFNB1A
|
Deafness, Digenic, Gjb2/Gjb3
|
|
Autosomal Recessive Nonsyndromic Deafness 1a
|
Deafness, Digenic, Gjb2/Gjb6
|
|
Deafness, Digenic Gjb2/Gjb6
|
Autosomal Recessive Deafness 1a
|
|
Deafness, Autosomal Recessive, 1a
|
Deafness Digenic Gjb2/Gjb3
|
|
Deafness Digenic Gjb2/Gjb6
|
Deafness Neurosensory Autosomal Recessive 1
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
|
|
Nsrd1
|
Deafness, Autosomal Recessive, Type 1a
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| 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
|
|
|
| Miyoshi Muscular Dystrophy |
|
Distal Myopathy
|
Distal Muscular Dystrophy
|
|
Miyoshi Myopathy
|
Distal Myopathies
|
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
|
Distal Muscular Dystrophies
|
|
|
| Usher Syndrome, Type Iiia |
|
Usher Syndrome Type 3
|
Ush3
|
|
Usher Syndrome Type 3a
|
USH3A
|
|
Usher Syndrome, Type Iii
|
Usher Syndrome, Type 3
|
|
Usher Syndrome, Type 3a
|
Usher Syndrome Type Iiia
|
|
Usher Syndrome 3a
|
Usher'S Syndrome Type 3
|
|
Usher Syndrome Iii
|
Usher Syndrome Type Iii
|
|
|
| Deafness, Autosomal Dominant 36 |
|
DFNA36
|
Autosomal Dominant Nonsyndromic Deafness 36
|
|
Autosomal Dominant Deafness 36
|
Deafness, Autosomal Dominant, 36
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36
|
|
Deafness, Autosomal Dominant, Type 36
|
|
|
| Deafness, Autosomal Recessive 83 |
|
DFNB83
|
Autosomal Recessive Nonsyndromic Deafness 83
|
|
Autosomal Recessive Deafness 83
|
|
|
| Deafness, Autosomal Recessive 2 |
|
DFNB2
|
Neurosensory Nonsyndromic Recessive Deafness 2
|
|
Nsrd2
|
Autosomal Recessive Nonsyndromic Deafness 2
|
|
Deafness, Autosomal Recessive, Type 2
|
Autosomal Recessive Deafness 2
|
|
Deafness, Autosomal Recessive, 2
|
Deafness Neurosensory Autosomal Recessive 2
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2
|
|
Deafness, Autosomal Recessive 2, Neurosensory
|
|
|
| Deafness, Autosomal Recessive 93 |
|
DFNB93
|
Autosomal Recessive Nonsyndromic Deafness 93
|
|
Autosomal Recessive Deafness 93
|
Deafness, Autosomal Recessive, 93
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93
|
Deafness, Autosomal Recessive, Type 93
|
|
|
| Deafness, Autosomal Recessive 21 |
|
DFNB21
|
Autosomal Recessive Nonsyndromic Deafness 21
|
|
Autosomal Recessive Deafness 21
|
Deafness, Autosomal Recessive, 21
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21
|
|
Deafness, Autosomal Recessive, Type 21
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Deafness, Autosomal Recessive 8 |
|
Neurosensory Nonsyndromic Recessive Deafness 8
|
DFNB8
|
|
Dfnb10
|
Deafness, Autosomal Recessive 10
|
|
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8
|
Nsrd8
|
|
Autosomal Recessive Nonsyndromic Deafness 8
|
Deafness, Autosomal Recessive 8/10
|
|
Autosomal Recessive Deafness 10
|
Autosomal Recessive Deafness 8
|
|
Childhood-Onset Neurosensory Autosomal Recessive Deafness 8
|
Nrsd8
|
|
Deafness, Autosomal Recessive, 8
|
Childhood-Onset Neurosensory Deafness Autosomal Recessive 8
|
|
Deafness Autosomal Recessive 10
|
Deafness Autosomal Recessive 8/10
|
|
Deafness Neurosensory Autosomal Recessive 8
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8
|
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8
|
Deafness, Autosomal Recessive, Type 8/10
|
|
|
| Deafness, Autosomal Recessive 12 |
|
DFNB12
|
Deafness, Autosomal Recessive 12, Modifier Of
|
|
Autosomal Recessive Nonsyndromic Deafness 12
|
Autosomal Recessive Deafness 12
|
|
Deafness, Autosomal Recessive, 12
|
Congenital Neurosensory Deafness Autosomal Recessive 12
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
|
|
Deafness, Autosomal Recessive, Type 12
|
|
|
| Deafness, Autosomal Dominant 3a |
|
DFNA3A
|
Autosomal Dominant Nonsyndromic Deafness 3a
|
|
Autosomal Dominant Deafness 3a
|
Deafness, Autosomal Dominant, 3a
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a
|
|
Deafness, Autosomal Dominant, Type 3a
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 6a |
|
Neuronal Ceroid Lipofuscinosis 6
|
CLN6
|
|
Vlincl
|
Cln6 Disease
|
|
Ceroid Lipofuscinosis, Neuronal, 6
|
Late-Infantile Neuronal Ceroid Lipofuscinosis
|
|
CLN6A
|
Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant
|
|
Neuronal Ceroid Lipofuscinosis 6a
|
Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset
|
|
Cln6 Disease, Adult Kufs Type A
|
Cln6 Disease, Late Infantile
|
|
Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant
|
Ceroid Lipofuscinosis Neuronal 6
|
|
Cln6-Related Neuronal Ceroid Lipofuscinosis
|
Late Infantile Neuronal Ceroid Lipofuscinosis
|
|
Jansky-Bielschowsky Disease
|
Lincl
|
|
Late Infantile Ncl
|
Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset
|
|
Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis
|
Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant
|
|
Lipofuscinosis, Ceroid, Neuronal, Type 6
|
Ceroid Lipofuscinosis, Neuronal, 5
|
|
|
| Cochlear Disease |
|
|
| Deafness, Autosomal Recessive 39 |
|
DFNB39
|
Autosomal Recessive Nonsyndromic Deafness 39
|
|
Autosomal Recessive Deafness 39
|
Deafness, Autosomal Recessive, 39
|
|
Congenital Neurosensory Deafness Autosomal Recessive 39
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39
|
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39
|
Deafness, Autosomal Recessive, Type 39
|
|
|
| Deafness, Autosomal Recessive 35 |
|
DFNB35
|
Autosomal Recessive Nonsyndromic Deafness 35
|
|
Autosomal Recessive Deafness 35
|
Deafness, Autosomal Recessive, 35
|
|
Deafness, Autosomal Recessive, Type 35
|
|
|
| Deafness, Autosomal Dominant 22 |
|
DFNA22
|
Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy
|
|
Autosomal Dominant Nonsyndromic Deafness 22
|
Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
|
|
Autosomal Dominant Deafness 22
|
Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome
|
|
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
|
Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome
|
|
DFNHCM
|
Deafness, Autosomal Dominant, 22
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22
|
|
Deafness, Autosomal Dominant, Type 22
|
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
|
|
|
| Deafness, Autosomal Dominant 44 |
|
DFNA44
|
Autosomal Dominant Nonsyndromic Deafness 44
|
|
Autosomal Dominant Deafness 44
|
Deafness, Autosomal Dominant, 44
|
|
Deafness, Autosomal Dominant, Type 44
|
|
|
| Deafness, Autosomal Dominant 9 |
|
DFNA9
|
Autosomal Dominant Nonsyndromic Deafness 9
|
|
Autosomal Dominant Deafness 9
|
Deafness, Autosomal Dominant, 9
|
|
Deafness, Autosomal Dominant, Type 9
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
Lgmd2b
|
Lgmd3
|
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 3
|
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
|
| Usher Syndrome, Type Id |
|
Usher Syndrome Type 1d
|
USH1D
|
|
Usher Syndrome, Type 1d
|
Usher Syndrome Type Id
|
|
Usher Syndrome, Type Id/F, Digenic
|
Usher Syndrome, Type 1d/F Digenic
|
|
Usher Syndrome 1d
|
Usher'S Syndrome Type 1d
|
|
Usher Syndrome 1d/F
|
USH1DF
|
|
Ush1d/F
|
Usher'S Syndrome Type 1h
|
|
Usher Syndrome 1h
|
Usher Syndrome Type Ih
|
|
Usher Syndrome, Type 1d/F
|
|
|
| Inner Ear Disease |
|
Labyrinthine Dysfunction
|
Diseases Of Inner Ear
|
|
Labyrinthine Disease
|
Abnormality Of The Inner Ear
|
|
Labyrinth Diseases
|
Labyrinthine Disorder
|
|
Nonfunctioning Labyrinth
|
Labyrinthine Loss Of Function
|
|
Labyrinthine Syndrome
|
Labyrinthine Disorder Nos
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| Deafness, Autosomal Recessive 63 |
|
DFNB63
|
Autosomal Recessive Nonsyndromic Deafness 63
|
|
Autosomal Recessive Deafness 63
|
Deafness, Autosomal Recessive, 63
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63
|
|
Deafness, Autosomal Recessive, Type 63
|
|
|
| Pendred Syndrome |
|
Goiter-Deafness Syndrome
|
Deafness With Goiter
|
|
PDS
|
Thyroid Dyshormonogenesis 2b
|
|
Tdh2b
|
Autosomal Recessive Sensorineural Hearing Impairment And Goiter
|
|
Pendred'S Syndrome
|
Thyroid Hormonogenesis, Genetic Defect In, 2b
|
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
|
Congenital Hypothyroidism Due To Dyshormonogenesis 2b
|
|
Genetic Defect In Thyroid Hormonogenesis 2b
|
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
|
|
Goiter-Hearing Loss Syndrome
|
Goitre-Deafness Syndrome
|
|
Goitre Deafness
|
|
|
| Usher Syndrome, Type Iia |
|
Usher Syndrome Type 2a
|
USH2A
|
|
Usher Syndrome, Type 2a
|
Usher Syndrome Type Iia
|
|
Retinal Disease In Usher Syndrome Type Iia, Modifier Of
|
Us2
|
|
Ush2
|
Usher Syndrome 2a
|
|
Usher'S Syndrome Type 2a
|
Ushiia
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Waardenburg'S Syndrome |
|
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
| Branchiootorenal Syndrome |
|
Branchio-Oto-Renal Syndrome
|
Bor Syndrome
|
|
Branchiootorenal Dysplasia
|
Melnick-Fraser Syndrome
|
|
Branchiootorenal Spectrum Disorders
|
Branchio-Otorenal Dysplasia
|
|
Branchio Oto Renal Syndrome
|
Branchiootorenal/Branchiootic Syndrome
|
|
Bo Syndrome
|
Bor
|
|
Bos
|
Branchio-Otorenal Syndrome
|
|
Branchiootic Syndrome
|
Branchiootorenal Syndrome
|
|
Branchiootic Syndrome 1
|
|
|
| Jervell And Lange-Nielsen Syndrome 1 |
|
Jervell And Lange-Nielsen Syndrome
|
Jervell-Lange Nielsen Syndrome
|
|
Prolonged Qt Interval In Ekg And Sudden Death
|
Cardioauditory Syndrome Of Jervell And Lange-Nielsen
|
|
Surdo-Cardiac Syndrome
|
JLNS1
|
|
Deafness, Congenital, And Functional Heart Disease
|
Jlns
|
|
Long Qt Interval-Deafness Syndrome
|
Jervell And Lange-Nielson Syndrome
|
|
Jervell Lange-Nielsen Syndrome
|
Autosomal Recessive Long Qt Syndrome
|
|
Cardio-Auditory-Syncope Syndrome
|
Long Qt Interval-Hearing Loss Syndrome
|
|
Congenital Deafness And Functional Heart Disease
|
Long Qt Interval-Deafness
|
|
|
| Usher Syndrome |
|
Deafness-Retinitis Pigmentosa Syndrome
|
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
|
|
Graefe-Usher Syndrome
|
Hallgren Syndrome
|
|
Usher'S Syndrome
|
Retinitis Pigmentosa-Deafness Syndrome
|
|
Retinitis Pigmentosa-Hearing Loss Syndrome
|
Ush
|
|
Usher Syndromes
|
|
|
| Usher Syndrome, Type I |
|
USH1
|
Usher Syndrome Type 1
|
|
Us1
|
Usher Syndrome, Type 1b
|
|
Usher Syndrome Type 1e
|
Retinitis Pigmentosa And Congenital Deafness
|
|
Usher Syndrome, Type Ie
|
USH1E
|
|
Usher Syndrome, Type 1e
|
Usher Syndrome, Type 1a
|
|
Usher Syndrome, Type Ib
|
Usher Syndrome Type 1b
|
|
Usher Syndrome Type Ie
|
Usher Syndrome Type I
|
|
Usher 1
|
Usher Syndrome, Type 1
|
|
Ush1a
|
Usher Syndrome, Type I, French Variety
|
|
Usher Syndrome, Type Ia
|
Usher Syndrome 1b
|
|
USH1B
|
Usher'S Syndrome Type 1b
|
|
Usher Syndrome Type Ib
|
Ushib
|
|
|
| Otosclerosis |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Bilirubin Metabolic Disorder |
|
Hyperbilirubinemia
|
Hereditary Hyperbilirubinemia
|
|
Hyperbilirubinemia, Hereditary
|
Hyperbilirubinaemia
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
|
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
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Turner Syndrome, Male
|
|
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| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
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Peripheral Nerve Disease
|
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Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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|
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| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
|
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Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
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ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
