Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Bone Diseases, Developmental (D001848)
..Starting node
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Dysostoses (D004413)

       Child Nodes:
........expandAchard syndrome (C536012)
........expandAcrodysostosis (C538179)
........expandCamptodactyly joint contractures and facial skeletal dysplasia (C537969)
........expandCervical Vertebrae, Agenesis Of (C562952)
........expandCraniofacial Dysostosis (D003394) Child68
........expandDiaphanospondylodysostosis (C564305)
........expandFocal Dermal Hypoplasia (D005489) Child1
........expandFronto-facio-nasal dysplasia (C538063)
........expandFRONTONASAL DYSPLASIA 1 (OMIM:136760)
........expandKlippel-Feil Syndrome (D007714) Child5
........expandMandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
........expandMandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
........expandMetaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
........expandOrofaciodigital Syndromes (D009958) Child14
........expandPelviscapular dysplasia (C535550) Child1
........expandRubinstein-Taybi Syndrome (D012415) Child2
........expandSpondylocostal Dysostosis 4, Autosomal Dominant (C565149)
........expandSPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT (OMIM:122600)
........expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
........expandSpondylocostal dysostosis, autosomal recessive (C535781) Child4
........expandSpondylospinal Thoracic Dysostosis (C566622)
........expandSynostosis (D013580) Child150
........expandThoracic Dysostosis, Isolated (C566063)
........expandThoracopelvic Dysostosis (C566062)



 Sister Nodes: 
..expandAcro-Osteolysis (D030981) Child7
..expandAcrocapitofemoral Dysplasia (C564334)
..expandAcromesomelic dysplasia, Maroteaux type (C535661)
..expandAcromicric dysplasia (C535662) Child1
..expandAgonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..expandAngel shaped phalangoepiphyseal dysplasia (C536361)
..expandBaby Rattle Pelvis Dysplasia (C565282)
..expandBasal Cell Nevus Syndrome (D001478) Child1
..expandBattaglia Neri syndrome (C537662)
..expandBazopoulou Kyrkanidou syndrome (C537664)
..expandBellini Chiumello Rimoldi syndrome (C535652)
..expandBlount disease (C536237)
..expandBone Dysplasia, Lethal, Holmgren Type (C565896)
..expandBrachioskeletogenital syndrome (C537084)
..expandBrachymesomelia renal syndrome (C537096)
..expandBrittle Bone Disorder (C565842)
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCATSHL syndrome (C537975)
..expandCervical Vertebral Dysplasia (C566140)
..expandCortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
..expandCraniolenticulosutural Dysplasia (C564332)
..expandDeafness conductive ptosis skeletal anomalies (C535993)
..expandDiaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..expandDiaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
..expandDoughnut Lesions of Skull, Familial (C565089)
..expandDwarfism (D004392) Child155
..expandDysostoses (D004413) Child262
..expandDysplasia epiphysealis hemimelica (C537997)
..expandDysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..expandFountain syndrome (C537270)
..expandFryns Hofkens Fabry syndrome (C538069)
..expandFunnel Chest (D005660) Child4
..expandGigantism (D005877) Child1
..expandGracile bone dysplasia (C537291)
..expandGurrieri Sammito Bellussi syndrome (C537625)
..expandHall Riggs mental retardation syndrome (C535623)
..expandIschiopatellar dysplasia (C535540)
..expandKantaputra Gorlin syndrome (C535547)
..expandKBG syndrome (C537015)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandKozlowski Warren Fisher syndrome (C537614)
..expandKyphomelic dysplasia (C538128)
..expandLarsen syndrome, recessive type (C537874)
..expandLeg Length Inequality (D007870)
..expandLenz Majewski hyperostotic dwarfism (C537115)
..expandLissencephaly Type III and Bone Dysplasia (C563383)
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandMarfan Syndrome (D008382) Child9
..expandMarshall-Smith syndrome (C536026)
..expandMembranous Cranial Ossification, Delayed (C563592)
..expandMesomelic Dysplasia, Camera Type (C567503)
..expandMesomelic Limb Shortening and Bowing (C565404)
..expandMononen Karnes Senac syndrome (C535914)
..expandOsteochondrodysplasias (D010009) Child367
..expandOsteofibrous Dysplasia (C563276)
..expandOsteolysis, Essential (D010015) Child1
..expandOsteosclerosis with ichthyosis and premature ovarian failure (C536064)
..expandPatterson pseudoleprechaunism syndrome (C536310)
..expandPectus Carinatum (D066166)
..expandPlatybasia (D010985) Child1
..expandPointer syndrome (C536323)
..expandPrenatal Bowing (C564873)
..expandProteus Syndrome (D016715) Child1
..expandRadius absent anogenital anomalies (C535281)
..expandRhizomelic dysplasia Patterson Lowry type (C537609)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRhizomelic syndrome (C537611)
..expandRoifman-Chitayat Syndrome (C567641)
..expandSantos Syndrome (C567819)
..expandSchwartz-Lelek syndrome (C537519)
..expandShort Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities (C566544)
..expandSkeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
..expandSkeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..expandSkeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification (C566687)
..expandSkeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..expandSpondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..expandSpranger Schinzel Myers syndrome (C535801)
..expandStoll Levy Francfort syndrome (C537498)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandUlna hypoplasia with mental retardation (C536934)
..expandVertebral body fusion overgrowth (C536543)
..expandWeill-Marchesani Syndrome (D056846)
..expandWeismann Netter syndrome (C537082)
..expandWiedemann Oldigs Oppermann syndrome (C536705)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3537
Name:Dysostoses
Definition:Defective bone formation involving individual bones, singly or in combination.
Alternative IDs:
ParentIDs:MESH:D001848
TreeNumbers:C05.116.099.370
Synonyms:Dysostosis
Slim Mappings:Musculoskeletal disease
Reference: MedGen: D004413
MeSH: D004413
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants