| 疾病名称 |
别名 |
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Ichthyosis, Hystrix-Like, With Deafness |
|
HID SYNDROME
|
Hystrix-Like Ichthyosis With Deafness
|
|
Ichthyosis Hystrix-Like With Deafness Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Dfnb1 |
|
Gjb2-Related Deafness
|
Connexin 26 Deafness
|
|
Deafness Nonsyndromic, Connexin 26 Linked
|
|
|
| Nonsyndromic Hearing Loss And Deafness, Dfnb1 |
|
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness
|
Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss And Deafness
|
|
|
| Hereditary Palmoplantar Keratoderma |
|
Hereditary Ppk
|
Hereditary Keratosis Palmoplantaris
|
|
Hereditary Palmoplantar Hyperkeratosis
|
|
|
| Ichthyosis Follicularis Atrichia Photophobia Syndrome |
|
|
| Porokeratotic Eccrine Ostial And Dermal Duct Nevus |
|
Comedo Nevus Of The Palm
|
Porokeratotic Eccrine Nevus
|
|
|
| Nonsyndromic Hearing Loss |
|
Nonsyndromic Deafness
|
Nonsyndromic Hearing Impairment
|
|
Nonsyndromic Hearing Loss And Deafness
|
Deafness, Nonsyndromic
|
|
Isolated 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
|
|
|
| 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
|
|
|
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ifap Syndrome With Or Without Bresheck Syndrome
|
IFAP1
|
|
Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia
|
Ichthyosis Follicularis Atrichia Photophobia Syndrome
|
|
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1
|
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1
|
|
Ifap Syndrome 1
|
Ifap Syndrome 1 With Or Without Bresheck Syndrome
|
|
Bresek Syndrome
|
Bresheck Syndrome
|
|
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome
|
Ifap Syndrome With/Without Bresheck Syndrome
|
|
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
|
|
|
| Non-Syndromic Genetic Deafness |
|
Nonsyndromic Genetic Hearing Loss
|
Isolated Genetic Deafness
|
|
Isolated Genetic Hearing Loss
|
Non-Syndromic Genetic Hearing Loss
|
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| 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 Recessive |
|
|
| Ear Malformation |
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| 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
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| 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
|
|
|
| Knuckle Pads |
|
|
| 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 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
|
|
|
| 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
|
|
|
| Keratitis, Hereditary |
|
Keratitis
|
Autosomal Dominant Keratitis
|
|
Hereditary Keratitis
|
Dominantly Inherited Keratitis
|
|
Keratitis Hereditary
|
KERH
|
|
|
| Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 |
|
Dfna3
|
Nsrd1
|
|
Neurosensory Nonsyndromic Dominant Deafness 1
|
|
|
| Newborn Respiratory Distress Syndrome |
|
Hyaline Membrane Disease
|
Respiratory Distress Syndrome Of Newborn
|
|
Neonatal Respiratory Distress
|
Hmd - Hyaline Membrane Disease
|
|
Neonatal Respiratory Distress Syndrome
|
Pulmonary Hyaline Membrane Disease
|
|
Pulmonary Hypoperfusion Syndrome Of Newborn
|
Respiratory Distress Syndrome, Newborn
|
|
Respiratory Distress Syndrome
|
Cardiorespiratory Distress Syndrome Of Newborn
|
|
Distress Respiratory Syndrome Newborn
|
Idiopathic Respiratory Distress Syndrome
|
|
Idiopathic Respiratory Distress Syndrome Of Newborn
|
Newborn Idiopathic Respiratory Distress Syndrome
|
|
Respiratory Distress Syndrome In Newborn
|
Rds - [Respiratory Distress Syndrome] Of Newborn
|
|
Newborn Cardiorespiratory Distress Syndrome
|
|
|
| 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 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
|
|
|
| Mutism |
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Ainhum |
|
Dactylolysis Spontanea
|
Spontaneous Dactylolysis
|
|
|
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary Arterial Hypertension
|
Pah
|
|
Idiopathic Pulmonary Arterial Hypertension
|
Idiopathic Pulmonary Hypertension
|
|
Primary Pulmonary Hypertension
|
PPH1
|
|
Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated
|
Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht
|
|
Pph
|
Familial Primary Pulmonary Hypertension
|
|
Sporadic Primary Pulmonary Hypertension
|
Pht
|
|
Fpah
|
Familial Pulmonary Arterial Hypertension
|
|
Hereditary Pulmonary Arterial Hypertension
|
Heritable Pulmonary Arterial Hypertension
|
|
Ayerza Syndrome
|
Fpph
|
|
Ppht
|
Ipah
|
|
Primary Pulmonary Arterial Hypertension
|
Pulmonary Hypertension, Familial Primary
|
|
Hypertension, Pulmonary, Primary, Type 1
|
Ayerza'S Syndrome
|
|
Pah - [Pulmonary Arterial Hypertension]
|
Arrillaga Ayerza Syndrome
|
|
|
| Keratosis |
|
Actinic Keratosis
|
Hyperkeratosis
|
|
|
| Palmoplantar Keratosis |
|
Palmoplantar Keratoderma
|
Keratosis Palmaris Et Plantaris
|
|
Palmo-Plantar Keratodermas
|
Keratoderma, Palmoplantar
|
|
Keratoderma Palmoplantar
|
Keratoderma, Palmoplantar, Diffuse
|
|
Hyperkeratosis Of Palms And Soles
|
Palmoplantar Hyperkeratosis
|
|
|
| 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
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Deafness, Autosomal Recessive 3 |
|
DFNB3
|
Neurosensory Nonsyndromic Recessive Deafness 3
|
|
Nsrd3
|
Deafness, Autosomal Recessive, 3
|
|
Deafness Neurosensory Autosomal Recessive 3
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3
|
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3
|
Deafness, Autosomal Recessive, Type 3
|
|
|
| Deafness, Autosomal Dominant 2b |
|
DFNA2B
|
Autosomal Dominant Nonsyndromic Deafness 2b
|
|
Autosomal Dominant Deafness 2b
|
Deafness, Autosomal Dominant, 2b
|
|
Deafness, Autosomal Dominant, Type 2b
|
|
|
| Drug-Induced Hearing Loss |
|
Drug Induced Hearing Loss
|
|
|
| Ectodermal Dysplasia |
|
Congenital Ectodermal Defect
|
Congenital Ectodermal Dysplasia
|
|
Ectodermal Dysplasia Syndrome
|
Dysplasia, Ectodermal
|
|
|
| Deafness, Autosomal Recessive 20 |
|
DFNB20
|
Autosomal Recessive Nonsyndromic Deafness 20
|
|
Autosomal Recessive Deafness 20
|
|
|
| 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
|
|
|
| Autosomal Recessive Nonsyndromic Deafness 3 |
|
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
|
Dfnb3
|
|
Nrsd3
|
Deafness, Autosomal Recessive 3
|
|
|
| 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
|
|
|
| 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
|
|
|
| Deafness, Autosomal Dominant 59 |
|
DFNA59
|
Autosomal Dominant Nonsyndromic Deafness 59
|
|
Autosomal Dominant Deafness 59
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| 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
|
|
|
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
|
PPKCA1
|
|
Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome
|
Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia
|
|
Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type
|
Ppk-Ca, Stevanovic Type
|
|
Ppkca, Stevanovic Type
|
Palmoplantar Keratoderma With Congenital Alopecia
|
|
Ppkca Stevanovic Type
|
Alopecia Congenita With Hyperkeratosis Of The Palms And Soles
|
|
Alopecia Congenita Keratosis Palmoplantaris
|
Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1
|
|
|
| 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
|
|
|
| Labyrinthitis |
|
Labyrinthine Disorder
|
Inner Ear Inflammation
|
|
Otitis Interna
|
Labyrinth Hyperaemia
|
|
|
| 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
|
|
|
| Hidradenitis Suppurativa |
|
Acne Inversa
|
Suppurative Hidradenitis
|
|
Acne Inversa, Familial
|
Apocrinitis
|
|
Hidradenitides, Suppurative
|
Hidradenitis, Suppurative
|
|
Suppurative Hidradenitides
|
Inverse Acne
|
|
|
| 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
|
|
|
| Hidradenitis |
|
|
| Deafness, Aminoglycoside-Induced |
|
Streptomycin Ototoxicity
|
Deafness, Mitochondrial, Modifier Of
|
|
Aminoglycoside-Induced Deafness
|
Deafness, Streptomycin-Induced
|
|
Streptomycin-Induced Deafness
|
DFNI
|
|
|
| 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
|
|
|
| Punctate Palmoplantar Keratoderma |
|
Punctate Palmoplantar Hyperkeratosis
|
Punctate Keratosis Palmoplantaris
|
|
Punctate Ppk
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 91 |
|
DFNB91
|
Autosomal Recessive Nonsyndromic Deafness 91
|
|
Autosomal Recessive Deafness 91
|
Deafness, Autosomal Recessive, 91
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91
|
Deafness, Autosomal Recessive, Type 91
|
|
|
| Deafness, Autosomal Recessive 77 |
|
DFNB77
|
Autosomal Recessive Nonsyndromic Deafness 77
|
|
Autosomal Recessive Deafness 77
|
Deafness, Autosomal Recessive, 77
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77
|
Deafness, Autosomal Recessive, Type 77
|
|
|
| Deafness, Autosomal Dominant 9 |
|
DFNA9
|
Autosomal Dominant Nonsyndromic Deafness 9
|
|
Autosomal Dominant Deafness 9
|
Deafness, Autosomal Dominant, 9
|
|
Deafness, Autosomal Dominant, Type 9
|
|
|
| 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
|
|
|
| Viral Labyrinthitis |
|
Epidemic Vertigo
|
Vestibular Neuronitis
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Konigsmark Syndrome
|
DFNA1
|
|
Autosomal Dominant Nonsyndromic Deafness 1
|
Lfhl1
|
|
Deafness, Autosomal Dominant 1
|
Autosomal Dominant Deafness 1
|
|
Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia
|
Hereditary Low Frequency Hearing Loss 1
|
|
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
|
Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome
|
|
Hereditary Low-Frequency Hearing Loss
|
Hereditary Low-Frequency Sensorineural Hearing Loss
|
|
Lfsnhl1
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1
|
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1
|
Deafness, Autosomal Dominant, Type 1
|
|
|
| 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
|
|
|
| Peripheral Vertigo |
|
|
| Cogan Syndrome |
|
Cogan'S Syndrome
|
Diffuse Interstitual Keratitis
|
|
Cogans Syndrome
|
Oculovestibuloauditory Syndrome
|
|
|
| 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
|
|
|
| Y-Linked Deafness |
|
|
| Deafness And Myopia |
|
High Myopia-Sensorineural Deafness Syndrome
|
DFNMYP
|
|
Deafness And Myopia Syndrome
|
Deafness, Cochlear, Plus
|
|
High Myopia And Sensorineural Deafness
|
Myopia And Deafness
|
|
High Myopia-Sensorineural Hearing Loss Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Purulent Labyrinthitis |
|
Suppurative Labyrinthitis
|
Acute Suppurative Labyrinthitis
|
|
Bacterial Labyrinthitis
|
|
|
| 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
|
|
|
| Parkinson Disease 8, Autosomal Dominant |
|
Parkinson Disease 8
|
Autosomal Dominant Parkinson Disease 8
|
|
PARK8
|
Parkinson'S Disease 8
|
|
Autosomal Dominant Parkinson'S Disease 8
|
Parkinson Disease-8
|
|
Parkinson Disease, Type 8, Autosomal Dominant
|
|
|
| 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
|
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
Autosomal Dominant Deafness
|
|
|
| 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, 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
|
|
|
| Deafness, Autosomal Recessive 29 |
|
DFNB29
|
Autosomal Recessive Nonsyndromic Deafness 29
|
|
Autosomal Recessive Deafness 29
|
Deafness, Autosomal Recessive, 29
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29
|
|
Deafness, Autosomal Recessive, Type 29
|
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 17 |
|
DFNB17
|
Autosomal Recessive Nonsyndromic Deafness 17
|
|
Autosomal Recessive Deafness 17
|
|
|
| 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
|
|
|
| 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 Dominant 17 |
|
DFNA17
|
Autosomal Dominant Nonsyndromic Deafness 17
|
|
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17
|
Autosomal Dominant Deafness 17
|
|
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration
|
Nonsyndromic Hereditary Deafness Dfna17
|
|
Deafness, Autosomal Dominant, 17
|
Cochleosaccular Degeneration
|
|
Deafness, Autosomal Dominant, Type 17
|
Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
|
|
|
| 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
|
|
|
| Corneal Disease |
|
Corneal Diseases
|
Corneal Disorders
|
|
|
| Petroclival Meningioma |
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 76 |
|
DFNB76
|
Autosomal Recessive Nonsyndromic Deafness 76
|
|
Autosomal Recessive Deafness 76
|
Deafness, Autosomal Recessive, 76
|
|
Deafness, Autosomal Recessive, Type 76
|
|
|
| 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
|
|
|
| Deafness, Autosomal Dominant 56 |
|
DFNA56
|
Autosomal Dominant Nonsyndromic Deafness 56
|
|
Autosomal Dominant Deafness 56
|
Deafness, Autosomal Dominant, 56
|
|
Deafness, Autosomal Dominant, Type 56
|
|
|
| Autosomal Recessive Nonsyndromic Deafness 32 |
|
Deafness, Autosomal Recessive 32
|
Autosomal Recessive Deafness 105
|
|
Autosomal Recessive Deafness 32
|
Dfnb32
|
|
Hearing Impairment Infertile Male Syndrome
|
Hiims
|
|
Deafness, Autosomal Recessive, Type 32
|
|
|
| Meniere Disease |
|
Meniere'S Disease
|
Otogenic Vertigo
|
|
Ménière Disease
|
Ménière'S Disease
|
|
Mnire'S Vertigo
|
Auditory Vertigo
|
|
Aural Vertigo
|
Meniere'S Syndrome
|
|
Ménière'S Vertigo
|
Primary Endolymphatic Hydrops
|
|
Menieres Disease
|
Vertigo, Aural
|
|
Labyrinth Hydrops
|
Labyrinthine Hydrops
|
|
Labyrinthine Vertigo
|
Ménière Syndrome
|
|
Ménière Vertigo
|
Idiopathic Endolymphatic Hydrops
|
|
|
| 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 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 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
|
|
|
| Deafness, Autosomal Dominant 4a |
|
Deafness, Autosomal Dominant 4
|
DFNA4A
|
|
Dfna4
|
Autosomal Dominant Nonsyndromic Deafness 4a
|
|
Autosomal Dominant Deafness 4a
|
Deafness, Autosomal Dominant, 4a
|
|
Deafness Autosomal Dominant 4
|
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4
|
|
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4
|
Deafness, Autosomal Dominant, Type 4a
|
|
|
| Cochlear Disease |
|
|
| Nevus, Epidermal |
|
Epidermal Nevus
|
Woolly Hair Nevus
|
|
Epidermal Naevus
|
Epidermal Nevus Syndrome
|
|
Nevus, Keratinocytic, Nonepidermolytic
|
Epidermal Nevus, Somatic
|
|
Nevus, Epidermal, Somatic
|
Nevus Sebaceous Or Woolly Hair Nevus, Somatic
|
|
Nonepidermolytic Keratinocytic Nevus
|
Epidermal Hamartoma Syndrome
|
|
Wooly Hair Nevus
|
Keratinocytic Non-Epidermolytic Nevus
|
|
KNEN
|
Pigmented Moles
|
|
Organoid Nevus Phakomatosis
|
Nevus Sebaceous
|
|
Melanocytic Nevus
|
Melanocytic Nevus Of Skin
|
|
|
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
CMDR
|
Autosomal Recessive Craniometaphyseal Dysplasia
|
|
Craniometaphyseal Dysplasia, Autosomal Recessive Type
|
Dysplasia, Craniometaphyseal, Autosomal Recessive
|
|
|
| Sensory System Disease |
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Esophageal Cancer |
|
Esophageal Carcinoma
|
Carcinoma Of Esophagus
|
|
Esophageal Squamous Cell Carcinoma, Somatic
|
Esophageal Carcinoma, Somatic
|
|
Esophagus Cancer
|
Gastric Cardia Adenocarcinoma
|
|
Esophageal Neoplasms
|
Esophageal Cancer, Somatic
|
|
Cancer Of Esophagus
|
Cancer Of Oesophagus
|
|
Carcinoma Of Oesophagus
|
Ca Lower Third Oesophagus
|
|
Ca Middle Third Oesophagus
|
Malignant Neoplasm Of Distal Third Of Esophagus
|
|
Malignant Neoplasm Of Lower Third Of Oesophagus
|
Malignant Neoplasm Of Middle Third Of Oesophagus
|
|
Malignant Neoplasm Of Proximal Third Of Esophagus
|
Malignant Neoplasm Of Upper Third Esophagus
|
|
Malignant Tumor Of Abdominal Esophagus
|
Malignant Tumor Of Distal Third Of Esophagus
|
|
Malignant Tumor Of Proximal Third Of Esophagus
|
Malignant Tumor Of The Middle Third Of The Esophagus
|
|
ESCR
|
Aerodigestive Tract Cancer
|
|
Escc
|
Esophageal Squamous Cell Carcinoma
|
|
Cancer, Esophageal
|
Malignant Neoplasm Of Esophagus
|
|
Squamous Cell Carcinoma Of Esophagus
|
Malignant Neoplasm Of Middle Third Of Esophagus
|
|
|
| Usher Syndrome Type 2 |
|
Ush2
|
Usher Syndrome Type Ii
|
|
|
| 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, 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
|
|
|
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Hereditary Papulotranslucent Acrokeratoderma
|
|
|
| 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
|
|
|
| Porokeratosis |
|
Disseminated Superficial Actinic Porokeratosis
|
Dsap
|
|
Porokeratosis Of Mibelli
|
Porokeratosis, Disseminated Superficial Actinic
|
|
Porokeratosis, Disseminated Superficial Actinic, 1
|
|
|
| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
|
Hereditary Hemochromatosis
|
Hh
|
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
|
Iron Storage Disorder
|
Bronze Diabetes
|
|
Hereditary Haemochromatosis
|
Hlah
|
|
Hfe
|
Hemochromatosis, Hereditary
|
|
Diabetes Bronze
|
Classic Hemochromatosis
|
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
|
Genetic Hemochromatosis
|
Hc
|
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
|
Bronze Cirrhosis
|
|
|
| Otosclerosis |
|
|
| Middle Ear Disease |
|
Middle Ear Anomaly
|
Disorder Of Middle Ear
|
|
|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
Pts Deficiency
|
|
HPABH4A
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
|
|
Ptsd
|
Bh4-Deficient Hyperphenylalaninemia A
|
|
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
|
|
Hyperphenylalanemia, Bh4-Deficient, A
|
Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
|
6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
|
|
Ptpsd
|
Hyperphenylalaninemia, Bh4-Deficient, Type A
|
|
|
| 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
|
|
|
| Perrault Syndrome |
|
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
|
Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
|
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
