| Parent Terms |
Term With Siblings |
Child Terms |
|
|
10p Deletion Syndrome (partial)
22q11 Deletion Syndrome +
alpha thalassemia-intellectual disability syndrome type 1
aminoglycoside-induced deafness
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant hypocalcemia 1 +
autosomal dominant intellectual developmental disorder 22
autosomal dominant nonsyndromic deafness +
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 19
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome type 2
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brown-Vialetto-Van Laere syndrome +
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Chitty Hall Baraitser Syndrome
chromosome 10q23 deletion syndrome
Chromosome 11p Deletion Syndrome +
Chromosome 13q Deletion Syndrome +
chromosome 13q14 deletion syndrome
Chromosome 13q33-q34 Deletion Syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
Chromosome 15q14 Deletion Syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q41-q42 deletion syndrome +
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
Chromosome Xq21 Deletion Syndrome
Chudley-Mccullough syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Combined Pituitary Hormone Deficiency 3
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Deafness with Total Albinism
Congenital Ectodermal Dysplasia with Hearing Loss
corneal dystrophy-perceptive deafness syndrome
craniofacial-deafness-hand syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Deafness, Nephritis, Anorectal Malformation
Deafness, Progressive High-Tone Neural
Deafness-Infertility Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dilated cardiomyopathy 1J
distal 10q deletion syndrome
distal arthrogryposis type 6
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness
Distal Renal Tubular Acidosis 3, Autosomal Recessive
dominant optic atrophy plus syndrome
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
familial isolated hypoparathyroidism +
Familial Visceral Neuropathy 2, Autosomal Recessive
Fitzsimmons Walson Mellor Syndrome
Forsythe-Wakeling Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Galloway-Mowat syndrome +
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
hereditary nonpolyposis colorectal cancer type 8
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hypoparathyroidism, Autosomal Recessive
hypoparathyroidism-deafness-renal disease syndrome A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
hypoparathyroidism-retardation-dysmorphism syndrome
hypotonia-cystinuria syndrome
Insulin-Like Growth Factor I Deficiency
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Miller-Dieker lissencephaly syndrome
Monosomy 7 Myelodysplasia and Leukemia Syndrome +
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
Nablus Mask-Like Facial Syndrome
Nephropathy, Deafness, and Hyperparathyroidism
Nephrosis with Deafness and Urinary Tract and Digital Malformations
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
Pfeiffer Kapferer Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
posterior amorphous corneal dystrophy
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pulmonic Stenosis and Congenital Nephrosis
Puromycin Aminonucleoside Nephrosis
Retinitis Pigmentosa Inversa with Deafness
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Rubinstein-Taybi syndrome +
SATB2-associated syndrome
Schaap Taylor Baraitser Syndrome
Sensorineural Deafness and Migraine
Sensorineural Deafness with Hypertrophic Cardiomyopathy
Sensorineural Deafness with Mild Renal Dysfunction
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
Treft Sanborn Carey Syndrome
Tunglang Savage Bellman Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Williams-Beuren syndrome +
Wolfram syndrome, mitochondrial form
X-linked hypoparathyroidism
X-linked nonsyndromic deafness +
Y-linked spermatogenic failure 1
|
|
 |
|
