GJB2 - gap junction protein beta 2 Gene

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

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

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

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

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

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

HID SYNDROME

Hystrix-Like Ichthyosis With Deafness

Ichthyosis Hystrix-Like With Deafness Syndrome

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

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

Gjb2-Related Deafness

Connexin 26 Deafness

Deafness Nonsyndromic, Connexin 26 Linked

Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss Deafness

Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss And Deafness

Hereditary Ppk

Hereditary Keratosis Palmoplantaris

Hereditary Palmoplantar Hyperkeratosis

Ifap Syndrome

Comedo Nevus Of The Palm

Porokeratotic Eccrine Nevus

Nonsyndromic Deafness

Nonsyndromic Hearing Impairment

Nonsyndromic Hearing Loss And Deafness

Deafness, Nonsyndromic

Isolated Deafness

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

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 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

Nonsyndromic Genetic Hearing Loss

Isolated Genetic Deafness

Isolated Genetic Hearing Loss

Non-Syndromic Genetic Hearing Loss

Deafness, Autosomal Recessive, Nonsyndromic

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

Cup Ear

Rare Genetic Hearing Loss

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 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

Garrod Pads

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

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

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

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

Dfna3

Nsrd1

Neurosensory Nonsyndromic Dominant Deafness 1

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

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

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

Ear Diseases

Ear And Mastoid Disease

Dactylolysis Spontanea

Spontaneous Dactylolysis

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

Actinic Keratosis

Hyperkeratosis

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

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

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

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

DFNA2B

Autosomal Dominant Nonsyndromic Deafness 2b

Autosomal Dominant Deafness 2b

Deafness, Autosomal Dominant, 2b

Deafness, Autosomal Dominant, Type 2b

Drug Induced Hearing Loss

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

DFNB20

Autosomal Recessive Nonsyndromic Deafness 20

Autosomal Recessive Deafness 20

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 Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

Dfnb3

Nrsd3

Deafness, Autosomal Recessive 3

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 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

DFNA59

Autosomal Dominant Nonsyndromic Deafness 59

Autosomal Dominant Deafness 59

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

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

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

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

Labyrinthine Disorder

Inner Ear Inflammation

Otitis Interna

Labyrinth Hyperaemia

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

Acne Inversa

Suppurative Hidradenitis

Acne Inversa, Familial

Apocrinitis

Hidradenitides, Suppurative

Hidradenitis, Suppurative

Suppurative Hidradenitides

Inverse Acne

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

Hydradenitis

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

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 Hyperkeratosis

Punctate Keratosis Palmoplantaris

Punctate Ppk

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

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant

Deafness-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

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

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

DFNA9

Autosomal Dominant Nonsyndromic Deafness 9

Autosomal Dominant Deafness 9

Deafness, Autosomal Dominant, 9

Deafness, Autosomal Dominant, Type 9

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

Epidemic Vertigo

Vestibular Neuronitis

X-Linked Deafness

Deafness, X-Linked

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

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

Vertigo, Peripheral

Cogan'S Syndrome

Diffuse Interstitual Keratitis

Cogans Syndrome

Oculovestibuloauditory Syndrome

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

Dfny

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

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

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

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

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

Suppurative Labyrinthitis

Acute Suppurative Labyrinthitis

Bacterial Labyrinthitis

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

PARK8

Parkinson'S Disease 8

Autosomal Dominant Parkinson'S Disease 8

Parkinson Disease-8

Parkinson Disease, Type 8, Autosomal Dominant

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 Deafness

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

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

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

WS1

Waardenburg Syndrome Type I

Waardenburg Syndrome With Dystopia Canthorum

Waardenburg'S Syndrome Type 1

Waardenburg Syndrome 1

Waardenburg Syndrome, Type I

Waardenburg Syndrome

DFNB17

Autosomal Recessive Nonsyndromic Deafness 17

Autosomal Recessive Deafness 17

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

DFNB30

Autosomal Recessive Nonsyndromic Deafness 30

Autosomal Recessive Deafness 30

Deafness, Autosomal Recessive, 30

Deafness, Autosomal Recessive, Type 30

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

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 Diseases

Corneal Disorders

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

DFNB76

Autosomal Recessive Nonsyndromic Deafness 76

Autosomal Recessive Deafness 76

Deafness, Autosomal Recessive, 76

Deafness, Autosomal Recessive, Type 76

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

DFNA56

Autosomal Dominant Nonsyndromic Deafness 56

Autosomal Dominant Deafness 56

Deafness, Autosomal Dominant, 56

Deafness, Autosomal Dominant, Type 56

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'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

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

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

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 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 Diseases

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

CMDR

Autosomal Recessive Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Dysplasia, Craniometaphyseal, Autosomal Recessive

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

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

Ush2

Usher Syndrome Type Ii

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 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

Hereditary Papulotranslucent Acrokeratoderma

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

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 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

Otospongiosis

Middle Ear Anomaly

Disorder Of Middle Ear

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

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

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 Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation