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Term:
MYH-9 related disease (DOID:0060651)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Acquired Pure Megakaryocytic Aplasia 
acquired thrombocytopenia +   
Acrootoocular Syndrome 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
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  
Bernard-Soulier syndrome +   
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 amegakaryocytic thrombocytopenia  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
congenital disorder of glycosylation Ix  
Congenital Ectodermal Dysplasia with Hearing Loss 
corneal dystrophy-perceptive deafness syndrome  
cortical deafness +   
craniofacial-deafness-hand syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
deafness-intellectual disability, Martin-Probst type syndrome  
dilated cardiomyopathy 1J  
distal arthrogryposis type 6 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
DK Phocomelia Syndrome 
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
DOORS syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 
Ermine Phenotype 
Evans' syndrome +   
Familial Platelet Disorder with Associated Myeloid Malignancy  
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Forsythe-Wakeling Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gardner Morrisson Abbot Syndrome 
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Giant Platelet Syndrome with Thrombocytopenia 
Glanzmann's thrombasthenia +   
Gonadal Dysgenesis, XX Type, with Deafness +   
gray platelet syndrome +   
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
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  
IVIC syndrome  
Jacobsen Distal 11q Deletion Syndrome +   
Johanson-Blizzard syndrome  
Kasabach-Merritt Syndrome +   
Marshall syndrome +   
MYH-9 related disease +   
A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO)
Neonatal Alloimmune Thrombocytopenia  
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
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 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Pfeiffer Kapferer Syndrome 
Phospholipase A2, Group IVA, Deficiency of  
Pigmentary Retinopathy and Sensorineural Deafness  
Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease  
Platelet Aggregation, Spontaneous 
Platelet Factor 3 Deficiency 
Platelet Prostacyclin Receptor Defect 
Platelet Receptor for Collagen, Deficiency of 
Platelet Signal Processing Defect 
platelet storage pool deficiency +   
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 12 
Platelet-Type Bleeding Disorder 13  
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
Platelet-Type Bleeding Disorder 21  
Platelet-Type Bleeding Disorder 22  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Primary Release Disorder Of Platelets 
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
qualitative platelet defect 
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +   
Retinitis Pigmentosa Inversa with Deafness 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
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 Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Spastic Paraplegia and Evans Syndrome 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Stormorken syndrome  
Sudden Hearing Loss  
Takenouchi-Kosaki Syndrome  
Tetraphocomelia-Thrombocytopenia Syndrome 
thiamine-responsive megaloblastic anemia syndrome  
thrombocytopenia +   
Thrombocytopenia 1  
Thrombocytopenia 2  
Thrombocytopenia 3  
Thrombocytopenia 4  
THROMBOCYTOPENIA 5  
THROMBOCYTOPENIA 6  
Thrombocytopenia Absent Ulnar Syndrome 
thrombocytopenia due to platelet alloimmunization +   
Thrombocytopenia Robin Sequence 
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thrombocytopenia, Anemia, and Myelofibrosis  
Thrombocytopenia, Cyclic 
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
thrombocytopenia-absent radius syndrome  
thrombocytosis +   
Thrombotic Microangiopathies +   
Townes-Brocks syndrome +   
transient neonatal thrombocytopenia 
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Undefined Platelet Disorder 
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Vohwinkel syndrome  
von Willebrand's disease +   
White Platelet Syndrome 
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-linked nonsyndromic deafness +   
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  

Synonyms
Exact Synonyms: APSM ;   Alport syndrome with leukocyte inclusions and macrothrombocytopenia ;   Alport syndrome with macrothrombocytopenia ;   BDPLT6 ;   Brodie Chole Griffin syndrome ;   Dohle leukocyte inclusions with giant platelets ;   EPSTNS ;   Epstein syndrome ;   FTNS ;   Fechtner syndrome ;   Fechtner's syndrome ;   MATINS ;   MHA ;   MYH9 gene-related autosomal macrothrombocytopenias ;   MYH9-related disorder ;   MYH9-related disorders ;   MYH9-related macrothrombocytopenias ;   MYH9RD ;   Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions ;   Macrothrombocytopenia and Progressive Sensorineural Deafness ;   Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ;   May-Hegglin anomaly ;   SBS ;   Sebastian platelet syndrome ;   Sebastian syndrome ;   autosomal dominant MYH9 spectrum disorders ;   bleeding disorder, platelet-type, 6 ;   macrothrombocytopathy, nephritis, and deafness ;   macrothrombocytopenia with dispersed leukocytic inclusions ;   macrothrombocytopenia with leukocyte inclusions ;   macrothrombocytopenia, nephritis, and deafness ;   macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions ;   macrothrombocytopenia, progressive deafness
Primary IDs: MESH:C535507 ;   MESH:C537831
Alternate IDs: OMIA:001608 ;   OMIM:155100
Xrefs: ORDO:182050
Definition Sources: https://ghr.nlm.nih.gov/condition/myh9-related-disorder, https://www.ncbi.nlm.nih.gov/pubmed/21567368

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.