| 疾病名称 |
别名 |
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythrokeratodermia Variabilis
|
Erythrokeratodermia Variabilis Et Progressiva
|
|
Greither Disease
|
Ekv
|
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Ekvp
|
PSEK
|
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Erythrokeratodermia Variabilis With Erythema Gyratum Repens
|
Keratosis Palmoplantaris Transgrediens Et Progrediens
|
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Transgrediens Et Progrediens Palmoplantar Keratoderma
|
EKVP1
|
|
Erythrokeratodermia, Progressive Symmetric
|
Erythrokeratodermia Figurata, Congenital Familial, In Plaques
|
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Keratoderma Palmoplantaris Transgrediens
|
Keratosis Extremitatum Hereditaria Progrediens
|
|
Erythrokeratodermia Variabilis, Mendes Da Costa Type
|
Progressive Symmetric Erythrokeratodermia
|
|
Erythrokeratodermia Figurata Variabilis
|
Greither'S Disease
|
|
Ekv-P
|
Erythrokeratodermia Variabilis Of Mendes Da Costa
|
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Progressive Symmetrical Erythrokeratoderma Of Gottron
|
Progressive Diffuse Ppk
|
|
Progressive Diffuse Palmoplantar Keratoderma
|
Transgrediens Et Progrediens Ppk
|
|
Darier-Gottron Disease
|
Erythrokeratodermia Progressiva Symmetrica
|
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Progressive Symmetric Erythrokeratodermia, Gottron Type
|
Congenital Familial Erythrokeratodermia Figurata In Plaques
|
|
Erythrokeratodermia Progressive Symmetric
|
Erythrokeratodermia Variabilis Mendes Da Costa Type
|
|
|
| Deafness, Autosomal Dominant 2b |
|
DFNA2B
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Autosomal Dominant Nonsyndromic Deafness 2b
|
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Autosomal Dominant Deafness 2b
|
Deafness, Autosomal Dominant, 2b
|
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Deafness, Autosomal Dominant, Type 2b
|
|
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| Deafness, Autosomal Recessive 1a |
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DFNB1A
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Deafness, Digenic, Gjb2/Gjb3
|
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Autosomal Recessive Nonsyndromic Deafness 1a
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Deafness, Digenic, Gjb2/Gjb6
|
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Deafness, Digenic Gjb2/Gjb6
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Autosomal Recessive Deafness 1a
|
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Deafness, Autosomal Recessive, 1a
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Deafness Digenic Gjb2/Gjb3
|
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Deafness Digenic Gjb2/Gjb6
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Deafness Neurosensory Autosomal Recessive 1
|
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1
|
|
Nsrd1
|
Deafness, Autosomal Recessive, Type 1a
|
|
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| Neuropathy With Hearing Impairment |
|
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| Nonsyndromic Hearing Loss And Deafness, Dfnb1 |
|
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness
|
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss And Deafness
|
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
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Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
|
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Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
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Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
|
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Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
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Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
|
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Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
|
|
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| Dfnb1 |
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Gjb2-Related Deafness
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Connexin 26 Deafness
|
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Deafness Nonsyndromic, Connexin 26 Linked
|
|
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| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
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| Deafness, Autosomal Recessive |
|
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| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
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Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
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Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
|
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Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
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Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
|
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Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
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Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
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Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
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| Sensorineural Hearing Loss |
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Sensory Hearing Loss
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Sensorineural Deafness
|
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
|
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Central Hearing Loss
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High Frequency Deafness
|
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
|
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Perceptive Deafness
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Perceptive Hearing Loss
|
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
|
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
|
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| Nonsyndromic Hearing Loss |
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Nonsyndromic Deafness
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Nonsyndromic Hearing Impairment
|
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Nonsyndromic Hearing Loss And Deafness
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Deafness, Nonsyndromic
|
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Isolated Deafness
|
|
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| Deafness, Autosomal Recessive 91 |
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DFNB91
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Autosomal Recessive Nonsyndromic Deafness 91
|
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Autosomal Recessive Deafness 91
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Deafness, Autosomal Recessive, 91
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91
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Deafness, Autosomal Recessive, Type 91
|
|
|
| Palmoplantar Keratosis |
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Palmoplantar Keratoderma
|
Keratosis Palmaris Et Plantaris
|
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Palmo-Plantar Keratodermas
|
Keratoderma, Palmoplantar
|
|
Keratoderma Palmoplantar
|
Keratoderma, Palmoplantar, Diffuse
|
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Hyperkeratosis Of Palms And Soles
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Palmoplantar Hyperkeratosis
|
|
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| Deafness, Autosomal Dominant 3a |
|
DFNA3A
|
Autosomal Dominant Nonsyndromic Deafness 3a
|
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Autosomal Dominant Deafness 3a
|
Deafness, Autosomal Dominant, 3a
|
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a
|
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Deafness, Autosomal Dominant, Type 3a
|
|
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| Deafness, Autosomal Dominant 3b |
|
DFNA3B
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Autosomal Dominant Nonsyndromic Deafness 3b
|
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Autosomal Dominant Deafness 3b
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Deafness, Autosomal Dominant, 3b
|
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b
|
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Deafness, Autosomal Dominant, Type 3b
|
|
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| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
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PPKCA1
|
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Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome
|
Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia
|
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Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type
|
Ppk-Ca, Stevanovic Type
|
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Ppkca, Stevanovic Type
|
Palmoplantar Keratoderma With Congenital Alopecia
|
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Ppkca Stevanovic Type
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Alopecia Congenita With Hyperkeratosis Of The Palms And Soles
|
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Alopecia Congenita Keratosis Palmoplantaris
|
Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1
|
|
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged Vestibular Aqueduct
|
DFNB4
|
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Neurosensory Nonsyndromic Recessive Deafness 4
|
Enlarged Vestibular Aqueduct Syndrome
|
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Nsrd4
|
Autosomal Recessive Nonsyndromic Deafness 4
|
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Dilated Vestibular Aqueduct
|
Dva
|
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Enlarged Vestibular Aqueduct, Digenic
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Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
|
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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
|
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Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
|
|
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| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
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Abnormality Of The Skin
|
Skin Diseases, Genetic
|
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Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
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| Keratosis |
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Actinic Keratosis
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Hyperkeratosis
|
|
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| Bart-Pumphrey Syndrome |
|
Knuckle Pads, Leukonychia, And Sensorineural Deafness
|
BAPS
|
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Knuckle Pads, Leuconychia And Sensorineural Deafness
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Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
|
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Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome
|
Knuckle Pads, Deafness And Leukonychia Syndrome
|
|
Knuckle Pads, Deafness, And Leukonychia Syndrome
|
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
|
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Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
|
|
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| Deafness, Autosomal Recessive 1b |
|
DFNB1B
|
Autosomal Recessive Nonsyndromic Deafness 1b
|
|
Autosomal Recessive Deafness 1b
|
Deafness, Autosomal Recessive, 1b
|
|
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 1b
|
|
|
| Clouston Syndrome |
|
Ectodermal Dysplasia 2, Clouston Type
|
Hidrotic Ectodermal Dysplasia
|
|
ECTD2
|
Clouston'S Hidrotic Ectodermal Dysplasia
|
|
Hidrotic Ectodermal Dysplasia Syndrome
|
Clouston Hidrotic Ectodermal Dysplasia
|
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Clouston'S Syndrome
|
Ed2
|
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Ectodermal Dysplasia, Hidrotic
|
Hed2
|
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Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
|
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Ectodermal Dysplasia, Hidrotic, 2, Formerly
|
Hed2, Formerly
|
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Autosomal Dominant Hidrotic Ectodermal Dysplasia
|
Hed
|
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Hidrotic Ectodermal Dysplasia, Autosomal Dominant
|
Hidrotic Ectodermal Dysplasia 2
|
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Ectodermal Dysplasia 2 Hidrotic
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Ectodermal Dysplasia Hidrotic Autosomal Dominant
|
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Dysplasia, Ectodermal, Hidrotic
|
|
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| Vohwinkel Syndrome |
|
Mutilating Keratoderma
|
Keratoderma Hereditarium Mutilans
|
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Khm
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VOWNKL
|
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Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes
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Mutilating Keratoderma Of Vohwinkel
|
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Mutilating Keratoderma Plus Deafness
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Ppk Mutilans And Deafness
|
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Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes
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Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes
|
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Palmoplantar Keratoderma Mutilans
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Palmoplantar Keratoderma Mutilans Vohwinkel
|
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Ppk Mutilans Vohwinkel
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Mutilating Keratoderma Plus Hearing Loss
|
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Ppk Mutilans And Hearing Loss
|
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| Keratoderma, Palmoplantar, With Deafness |
|
Palmoplantar Keratoderma-Deafness Syndrome
|
Palmoplantar Keratoderma With Deafness
|
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Palmoplantar Hyperkeratosis-Deafness Syndrome
|
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome
|
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Palmoplantar Keratoderma-Hearing Loss Syndrome
|
Ppk-Deafness Syndrome
|
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Keratoderma Palmoplantar Deafness
|
Diffuse Palmoplantar Keratoderma With Deafness
|
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Focal Palmoplantar Keratoderma With Sensorineural Deafness
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Hereditary Palmoplantar Keratoderma With Deafness
|
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Keratoderma Palmoplantar, With Deafness
|
Palmoplantar Keratoderma And Sensorineural Deafness
|
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Ppk With Deafness
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PPKDFN
|
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Keratoderma Palmoplantar, Deafness
|
|
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| Hereditary Lymphedema Ic |
|
Lymphedema, Hereditary, Ic
|
Lmph1c
|
|
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| Oculodentodigital Dysplasia |
|
Odd Syndrome
|
ODDD
|
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Oculodentoosseous Dysplasia
|
Oculodentodigital Syndrome
|
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Odod
|
Oculo-Dento-Digital Dysplasia
|
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Oculo-Dento-Digital Syndrome
|
Oculo-Dento-Osseous Dysplasia
|
|
Osseous-Oculo-Dental Dysplasia
|
Meyer-Schwickerath Syndrome
|
|
Oddd Syndrome
|
Oculo Dento Digital Dysplasia
|
|
Odds
|
Oculodentodigital Dysplasia Syndrome
|
|
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| Deafness, Autosomal Dominant 16 |
|
DFNA16
|
Autosomal Dominant Nonsyndromic Deafness 16
|
|
Autosomal Dominant Deafness 16
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
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Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
CMDR
|
Autosomal Recessive Craniometaphyseal Dysplasia
|
|
Craniometaphyseal Dysplasia, Autosomal Recessive Type
|
Dysplasia, Craniometaphyseal, Autosomal Recessive
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Ectodermal Dysplasia |
|
Congenital Ectodermal Defect
|
Congenital Ectodermal Dysplasia
|
|
Ectodermal Dysplasia Syndrome
|
Dysplasia, Ectodermal
|
|
|
| Drug-Induced Hearing Loss |
|
Drug Induced Hearing Loss
|
|
|
| Deafness, Autosomal Dominant 51 |
|
Chromosome 9q21.11 Duplication Syndrome
|
DFNA51
|
|
Autosomal Dominant Nonsyndromic Deafness 51
|
Autosomal Dominant Deafness 51
|
|
Deafness, Autosomal Dominant, Type 51
|
|
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| Deafness, Autosomal Dominant 18 |
|
DFNA18
|
Autosomal Dominant Nonsyndromic Deafness 18
|
|
Autosomal Dominant Deafness 18
|
|
|
| Deafness, X-Linked 2 |
|
Progressive Deafness With Stapes Fixation
|
DFNX2
|
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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
|
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Deafness Mixed With Perilymphatic Gusher
|
Thies-Reis Syndrome
|
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Deafness, Conductive, With Stapes Fixation
|
Deafness 3, Conductive, With Stapes Fixation
|
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Deafness, Mixed, With Perilymphatic Gusher
|
Conductive Deafness 3 With Stapes Fixation
|
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Conductive Deafness With Stapes Fixation
|
Mixed Deafness With Perilymphatic Gusher
|
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X-Linked Deafness Type 2
|
X-Linked Mixed Conductive And Neurosensory Hearing Loss
|
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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
|
|
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| 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
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Syndactyly, Type Iii |
|
Syndactyly Type 3
|
SDTY3
|
|
Ring And Little Finger Syndactyly
|
Syndactyly Of Fingers Iv And V
|
|
Syndactyly Of Fingers 4 And 5
|
Ringand Little Finger Syndactyly
|
|
Syndactyly Of Fingers Four And Five
|
Syndactyly Of The Ring And Little Finger
|
|
Sd3
|
Syndactyly 3
|
|
Syndactyly Type Iii
|
4-5 Finger Syndactyly
|
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Syndactyly, Type 3
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Mednik Syndrome
|
Erythrokeratodermia Variabilis 3
|
|
MEDNIK
|
Ekv3
|
|
Erythrokeratodermia Variabilis, Kamouraska Type
|
Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
|
|
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
|
Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
|
|
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
|
Erythrokeratodermia Variabilis Kamouraska Type
|
|
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
