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Ontology Browser

Term:
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (DOID:9006229)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Acrootoocular Syndrome 
Adult-Onset Muscular Dystrophy with Leukoencephalopathy  
Alpha-B Crystallinopathy with Cataract 
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
aminoglycoside-induced deafness  
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive distal hereditary motor neuronopathy 7  
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
autosomal-mitochondrial sensorineural deafness  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Bassoe Syndrome 
Becker muscular dystrophy  
Bjornstad syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
CAPOS Syndrome  
Cataract Ataxia Deafness 
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 
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 
congenital muscular dystrophy +   
corneal dystrophy-perceptive deafness syndrome  
cortical deafness +   
craniofacial-deafness-hand syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
De Hauwere syndrome  
Deafness, Progressive High-Tone Neural 
deafness-intellectual disability, Martin-Probst type syndrome  
Deafness-Oligodontia Syndrome 
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
dilated cardiomyopathy 1J  
distal arthrogryposis type 6 
distal myopathy +   
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis 3, Autosomal Recessive  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
DOORS syndrome  
Duchenne muscular dystrophy +   
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Emery-Dreifuss muscular dystrophy +   
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness  
Ermine Phenotype 
facioscapulohumeral muscular dystrophy +   
Familial Visceral Neuropathy 2, Autosomal Recessive  
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gemignani Syndrome 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
glycogen storage disease VII  
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Heimler syndrome 1  
HID Syndrome  
high myopia-sensorineural deafness syndrome  
High-Frequency Hearing Loss +   
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Homozygous 11p15-p14 Deletion Syndrome 
hypoparathyroidism-deafness-renal disease syndrome  
Insulin-Like Growth Factor I Deficiency  
Johanson-Blizzard syndrome  
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive  
Kilquist Syndrome  
limb-girdle muscular dystrophy +   
Marshall syndrome +   
Mid-Tone Neural Deafness 
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME  
This disease is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency.
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
MYH-9 related disease +   
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
myotonic disease +   
Nephropathy, Deafness, and Hyperparathyroidism 
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Nonsyndromic Sensorineural Hearing Loss +   
ocular albinism with sensorineural deafness  
oculopharyngeal muscular dystrophy +   
Oculopharyngeal Muscular Dystrophy 2  
oculopharyngodistal myopathy +   
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Perrault Syndrome 1  
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Premature Ovarian Failure 23  
Premature Ovarian Failure, Familial 
Presbycusis +   
primary ovarian insufficiency 1  
primary ovarian insufficiency 10  
primary ovarian insufficiency 11  
primary ovarian insufficiency 12  
primary ovarian insufficiency 13  
primary ovarian insufficiency 14  
primary ovarian insufficiency 15  
primary ovarian insufficiency 16  
primary ovarian insufficiency 17  
primary ovarian insufficiency 18  
primary ovarian insufficiency 19  
Primary Ovarian Insufficiency 20  
Primary Ovarian Insufficiency 21  
Primary Ovarian Insufficiency 22  
primary ovarian insufficiency 2A  
primary ovarian insufficiency 2B  
primary ovarian insufficiency 3  
primary ovarian insufficiency 4 
primary ovarian insufficiency 5  
primary ovarian insufficiency 6  
primary ovarian insufficiency 7  
primary ovarian insufficiency 8  
primary ovarian insufficiency 9  
Progressive Muscular Dystrophy, Pectorodorsal 
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Retinitis Pigmentosa Inversa with Deafness 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction  
Scapulohumeroperoneal Myopathy  
Schaap Taylor Baraitser Syndrome 
Sensorineural Deafness and Male Infertility  
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  
Sudden Hearing Loss  
thiamine-responsive megaloblastic anemia syndrome  
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Vacuolar Neuromyopathy  
Vohwinkel syndrome  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   

Synonyms
Exact Synonyms: MDHLO
Primary IDs: OMIM:619518
Definition Sources: OMIM:619518

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