| 疾病名称 |
别名 |
|
| Usher Syndrome, Type Iid |
|
Usher Syndrome Type 2d
|
USH2D
|
|
Usher Syndrome, Type 2d
|
Usher Syndrome Type Iid
|
|
Usher Syndrome 2d
|
Usher Syndrome, Type Ii
|
|
|
| Deafness, Autosomal Recessive 31 |
|
DFNB31
|
Whirler, Mouse, Homolog Of
|
|
Autosomal Recessive Nonsyndromic Deafness 31
|
Autosomal Recessive Deafness 31
|
|
Deafness, Autosomal Recessive, 31
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31
|
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31
|
Deafness, Autosomal Recessive, Type 31
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| 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
|
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Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| Aland Island Eye Disease |
|
AIED
|
Forsius-Eriksson Type Ocular Albinism
|
|
Forsius-Eriksson Syndrome
|
Autoimmune Inner Ear Disease
|
|
Forsius Eriksson Type Ocular Albinism
|
Aland Islands Eye Disease
|
|
Aaland Island Eye Disease
|
Ocular Albinism, Type Ii
|
|
|
| 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
|
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| Deafness, Autosomal Recessive |
|
|
| Autosomal Recessive Nonsyndromic Deafness 3 |
|
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
|
Dfnb3
|
|
Nrsd3
|
Deafness, Autosomal Recessive 3
|
|
|
| Deafness, Autosomal Recessive 102 |
|
DFNB102
|
Autosomal Recessive Nonsyndromic Deafness 102
|
|
Autosomal Recessive Deafness 102
|
Deafness, Autosomal Recessive, 102
|
|
Deafness, Autosomal Recessive, Type 102
|
|
|
| Deafness, Autosomal Dominant 56 |
|
DFNA56
|
Autosomal Dominant Nonsyndromic Deafness 56
|
|
Autosomal Dominant Deafness 56
|
Deafness, Autosomal Dominant, 56
|
|
Deafness, Autosomal Dominant, Type 56
|
|
|
| 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 Recessive 57 |
|
DFNB57
|
Autosomal Recessive Nonsyndromic Deafness 57
|
|
Autosomal Recessive Deafness 57
|
Deafness, Autosomal Recessive, 57
|
|
Deafness, Autosomal Recessive, Type 57
|
|
|
| Autosomal Recessive Nonsyndromic Deafness 36 |
|
Autosomal Recessive Deafness 36
|
Dfnb36
|
|
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
|
Deafness, Autosomal Recessive 36
|
|
|
| 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
|
|
|
| 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
|
|
|
| Usher Syndrome, Type Iic |
|
Usher Syndrome Type 2c
|
USH2C
|
|
Usher Syndrome, Type 2c
|
Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic
|
|
Usher Syndrome Type Iic
|
Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic
|
|
Usher Syndrome 2c
|
Usher'S Syndrome Type 2c
|
|
Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic
|
|
|
| Deafness, Autosomal Dominant 11 |
|
DFNA11
|
Autosomal Dominant Nonsyndromic Deafness 11
|
|
Autosomal Dominant Deafness 11
|
Deafness, Autosomal Dominant, 11
|
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11
|
Deafness, Autosomal Dominant, Type 11
|
|
|
| Deafness, Autosomal Recessive 23 |
|
DFNB23
|
Autosomal Recessive Nonsyndromic Deafness 23
|
|
Autosomal Recessive Deafness 23
|
Deafness, Autosomal Recessive, 23
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23
|
|
Deafness, Autosomal Recessive, Type 23
|
|
|
| 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
|
|
|
| Usher Syndrome, Type Ig |
|
Usher Syndrome Type 1g
|
USH1G
|
|
Usher Syndrome, Type 1g
|
Usher Syndrome Type Ig
|
|
Usher Syndrome 1g
|
Usher'S Syndrome Type 1g
|
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 18a |
|
Deafness, Autosomal Recessive 18
|
DFNB18A
|
|
Dfnb18
|
Autosomal Recessive Nonsyndromic Deafness 18a
|
|
Autosomal Recessive Deafness 18a
|
Deafness, Autosomal Recessive, 18a
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18
|
|
Deafness, Autosomal Recessive, Type 18a
|
|
|
| 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
|
|
|
| Usher Syndrome, Type Ij |
|
Usher Syndrome Type 1j
|
USH1J
|
|
Usher Syndrome Type Ij
|
Usher Syndrome 1j
|
|
Usher'S Syndrome Type 1j
|
|
|
| Deafness, Autosomal Recessive 30 |
|
DFNB30
|
Autosomal Recessive Nonsyndromic Deafness 30
|
|
Autosomal Recessive Deafness 30
|
Deafness, Autosomal Recessive, 30
|
|
Deafness, Autosomal Recessive, Type 30
|
|
|
| Deafness, Autosomal Recessive 79 |
|
DFNB79
|
Autosomal Recessive Nonsyndromic Deafness 79
|
|
Autosomal Recessive Deafness 79
|
Deafness, Autosomal Recessive, 79
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79
|
Deafness, Autosomal Recessive, Type 79
|
|
|
| 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
|
|
|
| Cochlear Disease |
|
|
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
|
| Late-Onset Retinal Degeneration |
|
LORD
|
Retinal Degeneration, Late-Onset, Autosomal Dominant
|
|
Autosomal Dominant Late-Onset Retinal Degeneration
|
Pigmentary Retinopathy
|
|
Retinal Degeneration, Late-Onset
|
Retinitis Pigmentosa
|
|
|
| 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
|
|
|
| Usher Syndrome, Type Ic |
|
USH1C
|
Usher Syndrome Type 1c
|
|
Usher Syndrome, Type 1c
|
Usher Syndrome Type I Acadian Variety
|
|
Usher Syndrome Type Ic
|
Usher Syndrome, Type I, Acadian Variety
|
|
Usher Syndrome 1c
|
Acadian Usher Syndrome
|
|
Usher'S Syndrome Type 1c
|
|
|
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Pharc Syndrome
|
PHARC
|
|
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
|
Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
|
|
Peripheral Neuropathy, Fiskerstrand Type
|
Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
|
|
|
| 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 67 |
|
DFNB67
|
Autosomal Recessive Nonsyndromic Deafness 67
|
|
Autosomal Recessive Deafness 67
|
Deafness, Autosomal Recessive, 67
|
|
Deafness, Autosomal Recessive, Type 67
|
|
|
| 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
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Deafness, Autosomal Recessive 86 |
|
DFNB86
|
Autosomal Recessive Nonsyndromic Deafness 86
|
|
Autosomal Recessive Deafness 86
|
Deafness, Autosomal Recessive, 86
|
|
Deafness, Nonsyndromic, Autosomal Recessive, Type 86
|
|
|
| Deafness, Autosomal Recessive 49 |
|
DFNB49
|
Autosomal Recessive Nonsyndromic Deafness 49
|
|
Autosomal Recessive Deafness 49
|
Deafness, Autosomal Recessive, 49
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49
|
|
Deafness, Autosomal Recessive, Type 49
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
Door Syndrome
|
Doors Syndrome
|
|
Digitorenocerebral Syndrome
|
Autosomal Recessive Deafness-Onychodystrophy Syndrome
|
|
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome
|
DOORS
|
|
Drc Syndrome
|
Eronen Syndrome
|
|
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome
|
Brachydactyly Due To Absence Of Distal Phalanges
|
|
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
|
Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
|
|
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome
|
Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
|
|
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome
|
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
|
|
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome
|
Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
|
|
Deafness, Congenital Onychodystrophy, Recessive Form
|
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
|
|
|
| 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
|
|
|
| Waardenburg Syndrome, Type 1 |
|
Waardenburg Syndrome Type 1
|
WS1
|
|
Waardenburg Syndrome Type I
|
Waardenburg Syndrome With Dystopia Canthorum
|
|
Waardenburg'S Syndrome Type 1
|
Waardenburg Syndrome 1
|
|
Waardenburg Syndrome, Type I
|
Waardenburg Syndrome
|
|
|
| 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
|
|
|
| Eye Degenerative Disease |
|
|
| Bardet-Biedl Syndrome 1 |
|
BBS1
|
Bardet-Biedl Syndrome 1, Modifier Of
|
|
Bardet-Biedl Syndrome
|
BBS
|
|
Bardet-Biedl Syndrome, Type 1
|
Laurence-Moon-Bardet-Biedl Syndrome
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| 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
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
