| 疾病名称 |
别名 |
|
| Clouston Syndrome |
|
Ectodermal Dysplasia 2, Clouston Type
|
Hidrotic Ectodermal Dysplasia
|
|
ECTD2
|
Clouston'S Hidrotic Ectodermal Dysplasia
|
|
Hidrotic Ectodermal Dysplasia Syndrome
|
Clouston Hidrotic Ectodermal Dysplasia
|
|
Clouston'S Syndrome
|
Ed2
|
|
Ectodermal Dysplasia, Hidrotic
|
Hed2
|
|
Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
|
|
Ectodermal Dysplasia, Hidrotic, 2, Formerly
|
Hed2, Formerly
|
|
Autosomal Dominant Hidrotic Ectodermal Dysplasia
|
Hed
|
|
Hidrotic Ectodermal Dysplasia, Autosomal Dominant
|
Hidrotic Ectodermal Dysplasia 2
|
|
Ectodermal Dysplasia 2 Hidrotic
|
Ectodermal Dysplasia Hidrotic Autosomal Dominant
|
|
Dysplasia, Ectodermal, Hidrotic
|
|
|
| Deafness, Autosomal Dominant 3b |
|
DFNA3B
|
Autosomal Dominant Nonsyndromic Deafness 3b
|
|
Autosomal Dominant Deafness 3b
|
Deafness, Autosomal Dominant, 3b
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b
|
|
Deafness, Autosomal Dominant, Type 3b
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hidrotic Ectodermal Dysplasia 2 |
|
Clouston Syndrome
|
Ectodermal Dysplasia 2, Hidrotic
|
|
Hidrotic Ectodermal Dysplasia
|
|
|
| Dfnb1 |
|
Gjb2-Related Deafness
|
Connexin 26 Deafness
|
|
Deafness Nonsyndromic, Connexin 26 Linked
|
|
|
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Kid Syndrome
|
Keratitis-Ichthyosis-Deafness Syndrome
|
|
Senter Syndrome
|
KIDAD
|
|
Kid Syndrome, Autosomal Dominant
|
Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome
|
|
Ichthyosis Hystrix Rheydt Type
|
Kid/Hid Syndrome
|
|
Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome
|
Keratitis Ichthyosis And Deafness Syndrome
|
|
Autosomal Dominant Kid Syndrome
|
Keratitis, Ichthyosis, And Deafness Syndrome
|
|
Ichthyosiform Erythroderma, Corneal Involvement, And Deafness
|
Keratitis, Ichthyosis, And Deafness
|
|
Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome
|
|
|
| Nonsyndromic Hearing Loss And Deafness, Dfnb1 |
|
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness
|
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss And Deafness
|
|
|
| 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
|
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
|
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
|
|
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
|
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
|
|
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
|
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
|
|
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
|
|
|
| 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
|
|
|
| Ectodermal Dysplasia |
|
Congenital Ectodermal Defect
|
Congenital Ectodermal Dysplasia
|
|
Ectodermal Dysplasia Syndrome
|
Dysplasia, Ectodermal
|
|
|
| Vohwinkel Syndrome |
|
Mutilating Keratoderma
|
Keratoderma Hereditarium Mutilans
|
|
Khm
|
VOWNKL
|
|
Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes
|
Mutilating Keratoderma Of Vohwinkel
|
|
Mutilating Keratoderma Plus Deafness
|
Ppk Mutilans And Deafness
|
|
Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes
|
Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes
|
|
Palmoplantar Keratoderma Mutilans
|
Palmoplantar Keratoderma Mutilans Vohwinkel
|
|
Ppk Mutilans Vohwinkel
|
Mutilating Keratoderma Plus Hearing Loss
|
|
Ppk Mutilans And 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
|
|
|
| Nonsyndromic Hearing Loss |
|
Nonsyndromic Deafness
|
Nonsyndromic Hearing Impairment
|
|
Nonsyndromic Hearing Loss And Deafness
|
Deafness, Nonsyndromic
|
|
Isolated Deafness
|
|
|
| Congenital Cytomegalovirus |
|
Fetal Cytomegalovirus Syndrome
|
Congenital Cytomegalovirus Infection
|
|
Antenatal Cmv Infection
|
Antenatal Cytomegalovirus Infection
|
|
Mother-To-Child Transmission Of Cytomegalovirus Syndrome
|
Cmv Antenatal Infection
|
|
Congenital Cmv Infection
|
|
|
| Hyperpigmentation Of The Skin |
|
|
| 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
|
|
|
| Bart-Pumphrey Syndrome |
|
Knuckle Pads, Leukonychia, And Sensorineural Deafness
|
BAPS
|
|
Knuckle Pads, Leuconychia And Sensorineural Deafness
|
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
|
|
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
|
|
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
|
|
|
| Petroclival Meningioma |
|
|
| Deafness, Autosomal Dominant 12 |
|
DFNA12
|
Dfna8
|
|
Deafness, Autosomal Dominant 8
|
Deafness, Autosomal Dominant 8/12
|
|
Autosomal Dominant Nonsyndromic Deafness 12
|
Autosomal Dominant Deafness 12
|
|
Autosomal Dominant Deafness 8
|
Deafness, Autosomal Dominant, 12
|
|
Deafness Autosomal Dominant 8
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12
|
|
Deafness, Autosomal Dominant, Type 12
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Deafness, Autosomal Dominant 6 |
|
DFNA6
|
Dfna14
|
|
Dfna38
|
Deafness, Autosomal Dominant 6/14/38
|
|
Autosomal Dominant Nonsyndromic Deafness 6
|
Deafness, Autosomal Dominant 14
|
|
Deafness, Autosomal Dominant 38
|
Autosomal Dominant Deafness 14
|
|
Autosomal Dominant Deafness 38
|
Autosomal Dominant Deafness 6
|
|
Deafness, Autosomal Dominant, 6
|
Deafness Autosomal Dominant 14
|
|
Deafness Autosomal Dominant 38
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6
|
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Keratoderma, Palmoplantar, With Deafness |
|
Palmoplantar Keratoderma-Deafness Syndrome
|
Palmoplantar Keratoderma With Deafness
|
|
Palmoplantar Hyperkeratosis-Deafness Syndrome
|
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome
|
|
Palmoplantar Keratoderma-Hearing Loss Syndrome
|
Ppk-Deafness Syndrome
|
|
Keratoderma Palmoplantar Deafness
|
Diffuse Palmoplantar Keratoderma With Deafness
|
|
Focal Palmoplantar Keratoderma With Sensorineural Deafness
|
Hereditary Palmoplantar Keratoderma With Deafness
|
|
Keratoderma Palmoplantar, With Deafness
|
Palmoplantar Keratoderma And Sensorineural Deafness
|
|
Ppk With Deafness
|
PPKDFN
|
|
Keratoderma Palmoplantar, Deafness
|
|
|
| Viral Labyrinthitis |
|
Epidemic Vertigo
|
Vestibular Neuronitis
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| 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
|
|
|
| Purulent Labyrinthitis |
|
Suppurative Labyrinthitis
|
Acute Suppurative Labyrinthitis
|
|
Bacterial Labyrinthitis
|
|
|
| Blepharoconjunctivitis |
|
|
| Deafness, Autosomal Dominant 59 |
|
DFNA59
|
Autosomal Dominant Nonsyndromic Deafness 59
|
|
Autosomal Dominant Deafness 59
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Oculodentodigital Dysplasia |
|
Odd Syndrome
|
ODDD
|
|
Oculodentoosseous Dysplasia
|
Oculodentodigital Syndrome
|
|
Odod
|
Oculo-Dento-Digital Dysplasia
|
|
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
|
|
|
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Christ-Siemens-Touraine Syndrome
|
XHED
|
|
Ectodermal Dysplasia 1
|
Xlhed
|
|
Ed1
|
Cst Syndrome
|
|
Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked
|
Ectd1
|
|
Ectodermal Dysplasia, Anhidrotic, X-Linked
|
Eda
|
|
Eda1
|
Hed1
|
|
Ectodermal Dysplasia 1, Anhidrotic
|
X-Linked Anhidrotic Ectodermal Dysplasia
|
|
X-Linked Hypohidrotic Ectodermal Dysplasia
|
Hypohidrotic X-Linked Ectodermal Dysplasia
|
|
Ectodermal Dysplasia, Hypohidrotic, 1
|
Hypohidrotic Ectodermal Dysplasia, X-Linked
|
|
Anhidrotic Ectodermal Dysplasia X-Linked
|
Hypohidrotic Ectodermal Dysplasia X-Linked
|
|
Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked
|
Ectodermal Dysplasia Anhidrotic
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| Leukodystrophy, Hypomyelinating, 2 |
|
Pmld1
|
Hypomyelinating Leukodystrophy 2
|
|
HLD2
|
Pelizaeus-Merzbacher-Like Disease 1
|
|
Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation
|
Pelizaeus-Merzbacher-Like Disease Type 1
|
|
Pelizaeus-Merzbacher-Like Disease, 1
|
Pelizaeus Merzbacher Like Disease
|
|
Pelizaeus-Merzbacher-Like Disease
|
Pmld - Pelizaeus Merzbacher Like Disease
|
|
Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1
|
Pmldar1
|
|
Leukodystrophy, Hypomyelinating, Type 2
|
|
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythrokeratodermia Variabilis
|
Erythrokeratodermia Variabilis Et Progressiva
|
|
Greither Disease
|
Ekv
|
|
Ekvp
|
PSEK
|
|
Erythrokeratodermia Variabilis With Erythema Gyratum Repens
|
Keratosis Palmoplantaris Transgrediens Et Progrediens
|
|
Transgrediens Et Progrediens Palmoplantar Keratoderma
|
EKVP1
|
|
Erythrokeratodermia, Progressive Symmetric
|
Erythrokeratodermia Figurata, Congenital Familial, In Plaques
|
|
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
|
|
Progressive Symmetrical Erythrokeratoderma Of Gottron
|
Progressive Diffuse Ppk
|
|
Progressive Diffuse Palmoplantar Keratoderma
|
Transgrediens Et Progrediens Ppk
|
|
Darier-Gottron Disease
|
Erythrokeratodermia Progressiva Symmetrica
|
|
Progressive Symmetric Erythrokeratodermia, Gottron Type
|
Congenital Familial Erythrokeratodermia Figurata In Plaques
|
|
Erythrokeratodermia Progressive Symmetric
|
Erythrokeratodermia Variabilis Mendes Da Costa Type
|
|
|
| Deafness, Autosomal Dominant 64 |
|
DFNA64
|
Autosomal Dominant Nonsyndromic Deafness 64
|
|
Autosomal Dominant Deafness 64
|
Deafness, Autosomal Dominant, 64
|
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64
|
|
Deafness, Autosomal Dominant, Type 64
|
|
|
| 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
|
|
|
| Labyrinthitis |
|
Labyrinthine Disorder
|
Inner Ear Inflammation
|
|
Otitis Interna
|
Labyrinth Hyperaemia
|
|
|
| Deafness, Autosomal Recessive 15 |
|
DFNB15
|
Dfnb72
|
|
Dfnb95
|
Deafness, Autosomal Recessive 72
|
|
Autosomal Recessive Nonsyndromic Deafness 15
|
Deafness, Autosomal Recessive 95
|
|
Autosomal Recessive Deafness 15
|
Autosomal Recessive Deafness 72
|
|
Autosomal Recessive Deafness 95
|
Deafness, Autosomal Recessive, 15
|
|
Deafness Autosomal Recessive 72
|
Deafness Autosomal Recessive 95
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15
|
|
Deafness, Autosomal Recessive, Type 15
|
|
|
| Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypohidrotic Ectodermal Dysplasia
|
Hed
|
|
Anhidrotic Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hypohidrotic
|
|
Eda
|
Christ-Siemens-Touraine Syndrome
|
|
ECTD10B
|
Ectodermal Dysplasia Anhidrotic
|
|
Ectodermal Dysplasia, Anhidrotic
|
Cst Syndrome
|
|
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
|
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
|
|
Dysplasia, Ectodermal, Hypohidrotic
|
Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
|
|
Ectodermal Dysplasia 3, Anhidrotic
|
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
|
|
|
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
CMTX1
|
Cmtx
|
|
Charcot-Marie-Tooth Disease X-Linked Dominant 1
|
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
|
|
X-Linked Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
|
|
Cmt1x
|
X-Linked Charcot-Marie-Tooth Disease Type 1
|
|
X-Linked Hereditary Motor And Sensory Neuropathy
|
Hereditary Motor And Sensory Neuropathy, X-Linked
|
|
Hmsn, X-Linked
|
Charcot-Marie-Tooth Neuropathy, X-Linked, 1
|
|
Cmt2, Formerly
|
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
|
|
Charcot-Marie-Tooth Neuropathy X-Linked 1
|
Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
|
|
Hereditary Motor And Sensory Neuropathy X-Linked
|
Hmsn X-Linked
|
|
Charcot-Marie-Tooth, X-Linked
|
Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
|
|
Charcot-Marie-Tooth Disease, X-Linked, 1
|
|
|
| Deafness, Autosomal Dominant 9 |
|
DFNA9
|
Autosomal Dominant Nonsyndromic Deafness 9
|
|
Autosomal Dominant Deafness 9
|
Deafness, Autosomal Dominant, 9
|
|
Deafness, Autosomal Dominant, Type 9
|
|
|
| Charcot-Marie-Tooth Disease Type X |
|
|
| Pachyonychia Congenita 1 |
|
Pachyonychia Congenita
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Jadassohn-Lewandowsky Syndrome
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Pachyonychia Congenita Syndrome
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PC1
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Pachyonychia Congenita, Jadassohn-Lewandowsky Type
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Congenital Pachyonychia
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Pachyonychia Congenita, Type 1
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Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
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Jadassohn-Lewandowsky Syndrome, Formerly
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Jackson-Lawler Type Pachyonychia Congenita
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Pachyonychia Congenita Type 1
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Jackson-Lawler Syndrome
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Jadassohn-Lewandowski Syndrome
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Pc
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Pachyonychia Congenita Jackson-Lawler Type
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Pachyonychia Congenita Jadassohn-Lewandowsky Type
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Pachyonychia Congenita Jackson Lawler Type
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Pc-1
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Pachyonychia Congenita, Jadassohn Lewandowsky Type
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Pachyonychia Congenita, Type 2
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| Waardenburg Syndrome, Type 1 |
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Waardenburg Syndrome Type 1
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WS1
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Waardenburg Syndrome Type I
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Waardenburg Syndrome With Dystopia Canthorum
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Waardenburg'S Syndrome Type 1
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Waardenburg Syndrome 1
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Waardenburg Syndrome, Type I
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Waardenburg Syndrome
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| Jervell And Lange-Nielsen Syndrome 1 |
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Jervell And Lange-Nielsen Syndrome
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Jervell-Lange Nielsen Syndrome
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Prolonged Qt Interval In Ekg And Sudden Death
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Cardioauditory Syndrome Of Jervell And Lange-Nielsen
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Surdo-Cardiac Syndrome
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JLNS1
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Deafness, Congenital, And Functional Heart Disease
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Jlns
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Long Qt Interval-Deafness Syndrome
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Jervell And Lange-Nielson Syndrome
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Jervell Lange-Nielsen Syndrome
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Autosomal Recessive Long Qt Syndrome
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Cardio-Auditory-Syncope Syndrome
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Long Qt Interval-Hearing Loss Syndrome
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Congenital Deafness And Functional Heart Disease
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Long Qt Interval-Deafness
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| Pendred Syndrome |
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Goiter-Deafness Syndrome
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Deafness With Goiter
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PDS
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Thyroid Dyshormonogenesis 2b
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Tdh2b
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Autosomal Recessive Sensorineural Hearing Impairment And Goiter
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Pendred'S Syndrome
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Thyroid Hormonogenesis, Genetic Defect In, 2b
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Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
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Congenital Hypothyroidism Due To Dyshormonogenesis 2b
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Genetic Defect In Thyroid Hormonogenesis 2b
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Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
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Goiter-Hearing Loss Syndrome
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Goitre-Deafness Syndrome
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Goitre Deafness
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| Waardenburg'S Syndrome |
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Waardenburg Syndrome
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Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
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Van Der Hoeve Halbertsona Waardenburg Syndrome
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Waardenburg Shah Syndrome
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Waardenburg, Types I And/Or Ii
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Mende Syndrome
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Waardenburgs Syndrome
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Waardenburg Syndrome, Type 4a
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| Orchitis |
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Inflammation Of Testis
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Orchititis
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Mumps Orchitis
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| Autosomal Dominant Nonsyndromic Deafness |
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Autosomal Dominant Deafness
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| Deafness, Autosomal Recessive 12 |
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DFNB12
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Deafness, Autosomal Recessive 12, Modifier Of
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Autosomal Recessive Nonsyndromic Deafness 12
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Autosomal Recessive Deafness 12
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Deafness, Autosomal Recessive, 12
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Congenital Neurosensory Deafness Autosomal Recessive 12
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
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Deafness, Autosomal Recessive, Type 12
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| Branchiootorenal Syndrome |
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Branchio-Oto-Renal Syndrome
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Bor Syndrome
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Branchiootorenal Dysplasia
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Melnick-Fraser Syndrome
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Branchiootorenal Spectrum Disorders
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Branchio-Otorenal Dysplasia
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Branchio Oto Renal Syndrome
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Branchiootorenal/Branchiootic Syndrome
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Bo Syndrome
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Bor
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Bos
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Branchio-Otorenal Syndrome
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Branchiootic Syndrome
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Branchiootorenal Syndrome
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Branchiootic Syndrome 1
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| Autosomal Recessive Nonsyndromic Deafness |
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Deafness, Autosomal Recessive, Nonsyndromic
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| Palmoplantar Keratoderma And Congenital Alopecia 1 |
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Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
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PPKCA1
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Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome
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Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia
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Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type
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Ppk-Ca, Stevanovic Type
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Ppkca, Stevanovic Type
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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
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Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1
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| Corneal Disease |
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Corneal Diseases
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Corneal Disorders
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| Otosclerosis |
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| Usher Syndrome, Type I |
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USH1
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Usher Syndrome Type 1
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Us1
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Usher Syndrome, Type 1b
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Usher Syndrome Type 1e
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Retinitis Pigmentosa And Congenital Deafness
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Usher Syndrome, Type Ie
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USH1E
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Usher Syndrome, Type 1e
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Usher Syndrome, Type 1a
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Usher Syndrome, Type Ib
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Usher Syndrome Type 1b
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Usher Syndrome Type Ie
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Usher Syndrome Type I
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Usher 1
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Usher Syndrome, Type 1
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Ush1a
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Usher Syndrome, Type I, French Variety
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Usher Syndrome, Type Ia
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Usher Syndrome 1b
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USH1B
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Usher'S Syndrome Type 1b
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Usher Syndrome Type Ib
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Ushib
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| Retinitis Pigmentosa |
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RP
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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
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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| Usher Syndrome Type 2 |
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Ush2
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Usher Syndrome Type Ii
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| Tooth Agenesis |
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Oligodontia
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Hypodontia
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Selective Tooth Agenesis
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Tooth Agenesis, Selective
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Familial Tooth Agenesis
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Anodontia
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Congenital Absence Of One Tooth
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
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Hereditary Motor And Sensory Neuropathy
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Pma
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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