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Ontology Browser

Term:
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (DOID:9002727)
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Parent Terms Term With Siblings Child Terms
Deafness +     
myopia +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Absence of Tibia with Congenital Deafness 
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Akaba Hayasaka Syndrome 
Albinism Deafness Syndrome 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Auriculoosteodysplasia 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Beukes hip dysplasia  
Blepharoptosis, Myopia, and Ectopia Lentis 
Blount's disease 
Boomerang dysplasia  
Bornholm Eye Disease 
brachyolmia +   
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Caffey disease +   
calvarial doughnut lesions with bone fragility  
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cardioauditory Syndrome of Sanchez Cascos 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
chondrodysplasia with joint dislocations gPAPP type  
chondrodysplasia-pseudohermaphroditism syndrome  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Cochlear Deafness with Myopia and Intellectual Impairment 
CODAS syndrome  
Cohen syndrome  
Collagenopathy, Type 2 Alpha 1  
Coloboma of Alar-Nasal Cartilages with Telecanthus 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Myopathy with Neuropathy and Deafness  
congenital stationary night blindness +   
Coxoauricular Syndrome 
Czech Dysplasia, Metatarsal Type  
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
degenerative myopia  
Desbuquois dysplasia +   
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diastrophic dysplasia +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Donnai-Barrow syndrome  
Dyschondrosteosis and Nephritis 
Ehlers-Danlos syndrome spondylodysplastic type 3  
Eiken syndrome  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
External Ophthalmoplegia and Myopia 
Fairbank Disease 
Familial Osteodysplasia, Anderson Type 
Faye-Petersen Ward Carey Syndrome 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fine-Lubinsky Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Frontootopalatodigital Osteodysplasia 
Gastrocutaneous Syndrome 
Ghosal hematodiaphyseal syndrome  
Greenberg dysplasia  
Hamamy Syndrome  
hereditary spastic paraplegia 24 
Herrmann Syndrome 
High Myopia +   
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyperlipoproteinemia Type II, and Deafness 
Hyperostosis Frontalis Interna 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypokalemic Tubulopathy and Deafness  
hypomyelinating leukodystrophy 26  
hypoparathyroidism-retardation-dysmorphism syndrome  
IMAGe syndrome  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Isolated Microphthalmia with Corectopia 
ITM2B-related cerebral amyloid angiopathy 2  
Jequier Kozlowski Skeletal Dysplasia 
Johnson Neuroectodermal Syndrome 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jones Syndrome 
Kashin-Beck Disease  
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
KINSSHIP syndrome  
Kniest dysplasia  
Konigsmark Knox Hussels Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Lowry Wood Syndrome  
Lynch Lee Murday syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Madelung Deformity 
Maffucci syndrome  
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Marshall syndrome +   
MASS Syndrome  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Camera Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Deafness Syndrome 
microcephaly, short stature, and limb abnormalities  
microcephaly-micromelia syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Mousa Al din Al Nassar Syndrome 
Muckle-Wells syndrome  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
multiple epiphyseal dysplasia with myopia and deafness  
multiple synostoses syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Myopia 1 
Myopia 10 
Myopia 11 
Myopia 12 
Myopia 13 
Myopia 14 
Myopia 15 
Myopia 16 
Myopia 17, Autosomal Dominant 
Myopia 18, Autosomal Recessive 
Myopia 19, Autosomal Dominant 
Myopia 2  
Myopia 20, Autosomal Dominant 
Myopia 21, Autosomal Dominant  
Myopia 22, Autosomal Dominant  
Myopia 23, Autosomal Recessive  
Myopia 24, Autosomal Dominant  
Myopia 25, Autosomal Dominant  
Myopia 26, X-Linked, Female-Limited  
Myopia 27  
Myopia 28  
Myopia 3 
Myopia 5 
Myopia 6  
Myopia 7 
Myopia 8 
Myopia 9 
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Nievergelt Syndrome 
Night Blindness Skeletal Anomalies Unusual Facies 
Noble Bass Sherman Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Opticocochleodentate Degeneration 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal recessive  
parastremmatic dwarfism  
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Perrault syndrome +   
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydactyly Myopia Syndrome 
Polydysspondyly 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pubic Bone Dysplasia 
pycnodysostosis  
Ramos Arroyo Clark Syndrome 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Roifman Syndrome  
SAPHO syndrome  
Saul-Wilson syndrome  
Schaefer Stein Oshman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Secretory Diarrhea, Myopathy, and Deafness 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Siddiqi syndrome  
Silverman-Handmaker type dyssegmental dysplasia  
Sinoatrial Node Dysfunction and Deafness  
Sinus Node Disease and Myopia 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slipped Capital Femoral Epiphyses 
spastic paraplegia with deafness 
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepiphyseal dysplasia +   
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
spondylometaphyseal dysplasia +   
Spondyloocular Syndrome, Autosomal Recessive  
spondyloperipheral dysplasia  
Spondylospinal Thoracic Dysostosis 
Stuve-Wiedemann Syndrome +   
Teebi Naguib Al Awadi syndrome 
temtamy preaxial brachydactyly syndrome  
terminal osseous dysplasia  
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Tietz syndrome  
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weissenbacher-Zweymuller syndrome +   
Wolcott-Rallison syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Primary IDs: MESH:C565585
Alternate IDs: MIM:226950

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