| 疾病名称 |
别名 |
|
| 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 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
|
|
|
| Ear Malformation |
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
Deafness, Autosomal Recessive, Nonsyndromic
|
|
|
| Athyreosis |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid Dysgenesis
|
CHNG2
|
|
Thyroid Hypoplasia
|
Thyroid Hemiagenesis
|
|
Thyroid Agenesis
|
Athyreotic Hypothyroidism
|
|
Rtsh
|
Thyrotropin Resistance
|
|
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia
|
Congenital Nongoitrous Hypothyroidism 2
|
|
Thyroid, Ectopic
|
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis
|
|
Hypothyroidism, Athyreotic
|
Thyrotropin
|
|
Resistance To Thyrotropin
|
Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia
|
|
Hypothyroidism, Congenital, Non-Goitrous, 2
|
Congenital Hypothyroidism Due To Thyroid Dysgenesis
|
|
Thyroid-Stimulating Hormone Resistance
|
Thyroid Ectopic
|
|
Ectopic Thyroid
|
Hypothyroidism, Congenital, Nongoitrous, 3
|
|
Thyroid Hormone Resistance Syndrome
|
Hypothyroidism, Congenital, Nongoitrous, 1
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| Goiter |
|
|
| Hypothyroidism |
|
Thyroid Diseases
|
Thyroid Disease
|
|
Thyroid Deficiency
|
Thyroid Insufficiency
|
|
Dysfunction Thyroid
|
Thyroid Dysfunction
|
|
|
| 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
|
|
|
| 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
|
|
|
| Multinodular Goiter |
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Diastrophic Dysplasia |
|
Diastrophic Dwarfism
|
DTD
|
|
Dd
|
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
|
|
Dysplasia, Diastrophic
|
Diastrophic Dysplasia Variant
|
|
|
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White Pattern
|
Wpw Syndrome
|
|
Anomalous Atrioventricular Excitation
|
Anomalous A-V Excitation
|
|
Ventricular Pre-Excitation With Arrhythmia
|
WPWS
|
|
Ventricular Familial Preexcitation Syndrome
|
Preexcitation Syndrome
|
|
Ventricular Preexcitation
|
Wpw - [Wolff-Parkinson- White] Syndrome
|
|
Pre-Excitation Syndrome
|
|
|
| Cochlear Disease |
|
|
| Hashimoto Thyroiditis |
|
Autoimmune Thyroiditis
|
Hashimoto Struma
|
|
Hashimoto'S Thyroiditis
|
Chronic Lymphocytic Thyroiditis
|
|
Lymphocytic Thyroiditis
|
Hashimoto Disease
|
|
Ht
|
Hashimoto'S Disease
|
|
Hashimoto'S Syndrome
|
Hypothyroidism, Autoimmune
|
|
Autoimmune Chronic Lymphocytic Thyroiditis
|
Chronic Lymphocytic Thyroiditides
|
|
Hashimoto Syndrome
|
Hashimotos Thyroiditis
|
|
Hashimoto Thyroiditis, Susceptibility To
|
Thyroiditis, Autoimmune
|
|
Lymphomatous Thyroiditis
|
Lymphoid Thyroiditis
|
|
Chronic Lymphadenoid Thyroiditis
|
Autoimmune Lymphocytic Chronic Thyroiditis
|
|
Goitre Lymphomatosa
|
Hashitoxicosis
|
|
Hashimoto Hypothyroidism
|
Lymphadenoid Goitre
|
|
Struma Lymphomatosa
|
Hyperthyroidism With Hashimoto Disease
|
|
Hashimoto Thyrotoxicosis
|
Thyrotoxicosis Due To Hashimoto Thyroiditis
|
|
Struma Lymphomatosis
|
Lymphadenoid Struma
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Toxic Labyrinthitis |
|
|
| Dyshormonogenic Goiter |
|
|
| Peripheral Vertigo |
|
|
| Congenital Hypothyroidism |
|
Cretinism
|
Neonatal Hypothyroidism
|
|
Ch
|
Cht
|
|
Congenital Myxedema
|
Myxedema, Congenital
|
|
Endemic Cretinism
|
Congenital Iodine-Deficiency Syndrome
|
|
Fetal Iodine Deficiency Syndrome
|
Congenital Iodine-Deficiency Hypothyroidism Nos
|
|
|
| Superior Semicircular Canal Dehiscence |
|
Superior Canal Dehiscence Syndrome
|
Superior Semicircular Canal Dehiscence Syndrome
|
|
Canal Dehiscence Syndrome
|
Superior Canal Dehiscence
|
|
Superior Canal Syndrome
|
Third Mobile Window Syndrome
|
|
Scds
|
Anemia, Sickle Cell
|
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
Bamforth-Lazarus Syndrome
|
Bamforth Syndrome
|
|
Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
|
Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
|
|
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome
|
Hypothyroidism-Cleft Palate Syndrome
|
|
BLS
|
Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
|
|
|
| Follicular Adenoma |
|
Follicular Adenoma Of The Thyroid Gland
|
Thyroid Follicular Adenoma
|
|
Adenoma Follicular
|
Follicular Thyroid Adenoma
|
|
Thyroid Gland Follicular Adenoma
|
|
|
| Autosomal Recessive Nonsyndromic Deafness 3 |
|
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
|
Dfnb3
|
|
Nrsd3
|
Deafness, Autosomal Recessive 3
|
|
|
| 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
|
|
|
| Hypokalemia |
|
Potassium Deficiency
|
Potassium Deficiency Disorder
|
|
Hypopotassemia
|
Potassium
|
|
Potassium [K] Deficiency
|
Hypokalaemic Syndrome
|
|
Hypopotassaemia
|
Hypopotassaemia Syndrome
|
|
Hypokalaemic
|
Potassium Depletion
|
|
|
| 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 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
|
|
|
| Diarrhea 1, Secretory Chloride, Congenital |
|
DIAR1
|
Chloride Diarrhea, Congenital, Finnish Type
|
|
Congenital Secretory Chloride Diarrhea 1
|
Congenital Chloride Diarrhea Finnish Type
|
|
Congenital Chloride Diarrhea
|
Chloridorrhea, Congenital
|
|
Congenital Chloride Diarrhoea Finnish Type
|
Congenital Chloridorrhea
|
|
Congenital Secretory Chloride Diarrhoea 1
|
Chloridorrhea Congenital
|
|
Cld
|
Diarrhea 1 Secretory Chloride Congenital
|
|
Diarrhea, Type 1, Chloride, Secretory, Congenital
|
|
|
| Labyrinthitis |
|
Labyrinthine Disorder
|
Inner Ear Inflammation
|
|
Otitis Interna
|
Labyrinth Hyperaemia
|
|
|
| Renal Tubular Acidosis |
|
Acidosis Renal Tubular
|
Acidosis, Renal Tubular
|
|
Lightwood-Albright Syndrome
|
Lightwood Syndrome
|
|
Idiopathic Infantile Hypercalcemia - Mild Form
|
Kidney Tubular Acidosis
|
|
Renal Tubule Acidosis
|
Kidney Acidosis
|
|
Renal Acidosis
|
Renal Hyperchloremic Acidosis
|
|
Rta - [Renal Tubular Acidosis]
|
|
|
| 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
|
|
|
| Deafness, Autosomal Dominant 56 |
|
DFNA56
|
Autosomal Dominant Nonsyndromic Deafness 56
|
|
Autosomal Dominant Deafness 56
|
Deafness, Autosomal Dominant, 56
|
|
Deafness, Autosomal Dominant, Type 56
|
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
Anaplastic Thyroid Carcinoma
|
Anaplastic Thyroid Cancer
|
|
Thyroid Cancer, Anaplastic
|
Thyroid Carcinoma, Anaplastic
|
|
Thyroid Carcinoma Anaplastic
|
|
|
| X-Linked Nonsyndromic Deafness |
|
X-Linked Deafness
|
Deafness, X-Linked
|
|
|
| Drug-Induced Hearing Loss |
|
Drug Induced Hearing Loss
|
|
|
| Deafness, Autosomal Dominant 2b |
|
DFNA2B
|
Autosomal Dominant Nonsyndromic Deafness 2b
|
|
Autosomal Dominant Deafness 2b
|
Deafness, Autosomal Dominant, 2b
|
|
Deafness, Autosomal Dominant, Type 2b
|
|
|
| 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 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
|
|
|
| Endemic Goiter |
|
Iodine-Deficiency-Related Endemic Goitre
|
Simple Goitre
|
|
Goiter, Endemic
|
Euthyroid Goiter
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Baraitser-Winter Syndrome |
|
Fryns-Aftimos Syndrome
|
Brws
|
|
Cerebro-Frontofacial Syndrome, Type 3
|
Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
|
|
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability
|
Trigonocephaly Ptosis Coloboma
|
|
Trigonocephaly Ptosis Intellectual Disability
|
Cerebrofrontofacial Syndrome Type 3
|
|
|
| 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 Dominant 15 |
|
DFNA15
|
Autosomal Dominant Nonsyndromic Deafness 15
|
|
Autosomal Dominant Deafness 15
|
Deafness, Autosomal Dominant, 15
|
|
Deafness, Autosomal Dominant, Type 15
|
|
|
| Y-Linked Deafness |
|
|
| 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 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, Aminoglycoside-Induced |
|
Streptomycin Ototoxicity
|
Deafness, Mitochondrial, Modifier Of
|
|
Aminoglycoside-Induced Deafness
|
Deafness, Streptomycin-Induced
|
|
Streptomycin-Induced Deafness
|
DFNI
|
|
|
| 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
|
|
|
| Thyroid Dyshormonogenesis 6 |
|
TDH6
|
Genetic Defect In Thyroid Hormonogenesis 6
|
|
Thyroid Hormonogenesis, Genetic Defect In, 6
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6
|
|
Chdh6
|
Congenital Hypothyroidism Due To Dyshormonogenesis 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 Recessive 83 |
|
DFNB83
|
Autosomal Recessive Nonsyndromic Deafness 83
|
|
Autosomal Recessive Deafness 83
|
|
|
| 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
|
|
|
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Sesame Syndrome
|
East Syndrome
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SESAMES
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Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
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Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance
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Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
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Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
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Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
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Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance
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Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
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Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
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Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
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Epilepsy Ataxia Sensorineural Deafness And Tubulopathy
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Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
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| Thyroid Gland Disease |
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Abnormality Of The Thyroid Gland
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Thyroid Diseases
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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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| Usher Syndrome, Type Id |
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Usher Syndrome Type 1d
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USH1D
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Usher Syndrome, Type 1d
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Usher Syndrome Type Id
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Usher Syndrome, Type Id/F, Digenic
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Usher Syndrome, Type 1d/F Digenic
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Usher Syndrome 1d
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Usher'S Syndrome Type 1d
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Usher Syndrome 1d/F
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USH1DF
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Ush1d/F
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Usher'S Syndrome Type 1h
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Usher Syndrome 1h
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Usher Syndrome Type Ih
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Usher Syndrome, Type 1d/F
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| Vertigo, Benign Recurrent |
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Benign Paroxysmal Positional Vertigo
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Bppv
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Vestibulopathy, Familial
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BRV
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Vertigo, Benign Paroxysmal Positional
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Benign Paroxysmal Positional Nystagmus
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Benign Recurrent Vertigo
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Familial Benign Recurrent Vertigo
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Familial Vestibulopathy
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Benign Paroxysmal Nystagmus
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Bppv - [Benign Positional Paroxysmal Vertigo]
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| Autosomal Dominant Nonsyndromic Deafness |
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Autosomal Dominant Deafness
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| Renal Tubular Transport Disease |
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Renal Tubular Transport, Inborn Errors
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Inborn Renal Tubular Transport Disorder
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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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| Deafness, Autosomal Dominant 4a |
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Deafness, Autosomal Dominant 4
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DFNA4A
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Dfna4
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Autosomal Dominant Nonsyndromic Deafness 4a
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Autosomal Dominant Deafness 4a
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Deafness, Autosomal Dominant, 4a
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Deafness Autosomal Dominant 4
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4
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Deafness, Autosomal Dominant, Type 4a
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| Usher Syndrome, Type Iia |
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Usher Syndrome Type 2a
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USH2A
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Usher Syndrome, Type 2a
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Usher Syndrome Type Iia
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Retinal Disease In Usher Syndrome Type Iia, Modifier Of
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Us2
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Ush2
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Usher Syndrome 2a
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Usher'S Syndrome Type 2a
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Ushiia
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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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| Usher Syndrome |
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Deafness-Retinitis Pigmentosa Syndrome
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Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
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Graefe-Usher Syndrome
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Hallgren Syndrome
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Usher'S Syndrome
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Retinitis Pigmentosa-Deafness Syndrome
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Retinitis Pigmentosa-Hearing Loss Syndrome
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Ush
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Usher Syndromes
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| Bartter Disease |
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Bartter Syndrome
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Bartter'S Syndrome
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Aldosteronism With Hyperplasia Of The Adrenal Cortex
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Hypokalemic Alkalosis With Hypercalciuria
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Potassium Wasting
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Juxtaglomerular Hyperplasia With Secondary Aldosteronism
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Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria
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Salt-Losing Tubular Disorder, Henle'S Loop Type
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Salt-Wasting Tubulopathy, Henle'S Loop Type
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Bartters Syndrome
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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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| Cystic Fibrosis |
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Mucoviscidosis
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CF
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Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
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Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
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Cystic Fibrosis Lung Disease, Modifier Of
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Cystic Fibrosis Of Pancreas
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Fibrocystic Disease Of Pancreas
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Cf - [Cystic Fibrosis]
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Cystic Fibrosis Nos
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Fibrocystic Disease
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Fibrocystic Disease Of The Pancreas
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Mucoviscidosis Of Pancreas
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Nonproliferative Fibrocystic Disease
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Pancreatic Cystic Fibrosis
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| Liddle Syndrome 1 |
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Liddle Syndrome
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Pseudoaldosteronism
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Liddle'S Syndrome
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LIDLS1
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Lidls
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Pseudohyperaldosteronism
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Pseudoprimary Hyperaldosteronism
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Pseudohyperaldosteronism Type 1
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Liddles Syndrome
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| Stickler Syndrome |
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Arthroophthalmopathy
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Hereditary Arthro-Ophthalmo-Dystrophy
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Hereditary Arthro-Ophthalmopathy
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Stickler Dysplasia
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Hereditary Progressive Arthroophthalmopathy
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Stickler Syndrome, Type 1
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| Otosclerosis |
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| Thyroid Gland Follicular Carcinoma |
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Follicular Thyroid Carcinoma
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Follicular Adenocarcinoma
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Follicular Adenocarcinoma, Well Differentiated
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Follicular Carcinoma
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Thyroid Adenocarcinoma
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Adenocarcinoma, Follicular
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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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| Sensory System Disease |
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| Charge Syndrome |
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Charge Association
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Hall-Hittner Syndrome
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Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
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Hhs
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Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
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Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
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CHARGES
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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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