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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Osteochondrodysplasias (D010009)

       Child Nodes:
........expandAchondrogenesis (C579878)
........expandAchondroplasia (D000130) Child21
........expandAcquired Hyperostosis Syndrome (D020083)
........expandAcrodysostosis (C538179)
........expandAcrodysplasia scoliosis (C538180)
........expandAcrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
........expandAcromesomelic dysplasia (C535658) Child1
........expandAcromesomelic dysplasia Campailla-Martinelli type (C535659)
........expandAcropectorovertebral Dysplasia, F-Form (C566319)
........expandAkaba Hayasaka syndrome (C535609)
........expandAnauxetic dysplasia (C538256)
........expandAtelosteogenesis type 2 (C535395)
........expandAtelosteogenesis Type 3 (C579928)
........expandAtelosteogenesis, type 1 (C535396)
........expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
........expandAuriculoosteodysplasia (C538271)
........expandBoomerang dysplasia (C536573)
........expandBrachyolmia (C537098)
........expandBrachyolmia Type 2 (C563218)
........expandBrachyolmia Type 3 (C562963)
........expandBrachyolmia, recessive Hobaek type (C537099)
........expandCamurati-Engelmann Syndrome (D003966) Child4
........expandCantu syndrome (C535572)
........expandCartilage hair hypoplasia like syndrome (C535915)
........expandCartilage-hair hypoplasia (C535916)
........expandChondrodysplasia Calcificans Metaphysealis (C565855)
........expandChondrodysplasia Punctata (D002806) Child13
........expandChondrodysplasia, blomstrand type (C537914)
........expandChondrodysplasia, Grebe type (C537915)
........expandChondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
........expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
........expandCleidocranial Dysplasia (D002973) Child5
........expandCleidorhizomelic syndrome (C536428)
........expandCloverleaf skull micromelia thoracic dysplasia (C536429)
........expandCODAS syndrome (C536434)
........expandCollagenopathy, type 2 alpha 1 (C535964)
........expandColoboma of Alar-nasal cartilages with telecanthus (C535967)
........expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
........expandCraniodiaphyseal Dysplasia (C562940)
........expandCraniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
........expandCzech dysplasia, metatarsal type (C535766)
........expandDyggve-Melchior-Clausen syndrome (C535726)
........expandDyschondrosteosis and Nephritis (C565080)
........expandEiken Skeletal Dysplasia (C564010)
........expandEllis-Van Creveld Syndrome (D004613) Child6
........expandEnchondromatosis (D004687)
........expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
........expandEpiphyseal Dysplasia, Baumann Type (C563664)
........expandEpiphyseal dysplasia, multiple, 1 (C535501)
........expandEpiphyseal dysplasia, multiple, 2 (C535502)
........expandEpiphyseal dysplasia, multiple, 3 (C535503)
........expandEpiphyseal dysplasia, multiple, 4 (C535504)
........expandEpiphyseal dysplasia, multiple, 5 (C535505)
........expandEpiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
........expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
........expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
........expandEpiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
........expandFairbank disease (C536393)
........expandFaye-Petersen Ward Carey syndrome (C537076)
........expandFibrous Dysplasia of Bone (D005357) Child9
........expandFraser Jequier Chen syndrome (C535481)
........expandFrontometaphyseal dysplasia (C538064)
........expandFrontootopalatodigital Osteodysplasia (C567578)
........expandGhosal Hematodiaphyseal Dysplasia (C565551)
........expandHEM dysplasia (C535858) Child1
........expandHeterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
........expandHip Dysplasia, Beukes Type (C564185)
........expandHyperostosis Frontalis Interna (D006957) Child1
........expandHyperostosis, Cortical, Congenital (D006958) Child6
........expandHypochondrogenesis (C563007)
........expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
........expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
........expandJansen type metaphyseal chondrodysplasia (C537564)
........expandJequier Kozlowski skeletal dysplasia (C537569)
........expandKashin-Beck Disease (D057767)
........expandKniest dysplasia (C537207)
........expandKniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
........expandKozlowski Tsuruta Taki syndrome (C537510)
........expandLanger mesomelic dysplasia (C537267)
........expandLanger-Giedion Syndrome (D015826) Child2
........expandLaplane Fontaine Lagardere syndrome (C537869)
........expandLarsen Syndrome (C580241)
........expandLarsen syndrome, dominant type (C537873)
........expandLarsen-Like Syndrome (C563914)
........expandLeri-Weil syndrome (C537119)
........expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
........expandLowry Wood syndrome (C537038)
........expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
........expandMadelung Deformity (C562398)
........expandMarshall syndrome (C536025)
........expandMegaepiphyseal dwarfism (C536140) Child1
........expandMental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
........expandMesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
........expandMesomelic dwarfism Reinhardt Pfeiffer type (C537349)
........expandMesomelic Dysplasia, Savarirayan Type (C565349)
........expandMetaphyseal anadysplasia (C537351)
........expandMetaphyseal Anadysplasia 1 (C567545)
........expandMetaphyseal Anadysplasia 2 (C567771)
........expandMetaphyseal chondrodysplasia Schmid type (C537352)
........expandMetaphyseal chondrodysplasia Spahr type (C537353)
........expandMetaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
........expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
........expandMetaphyseal Chondrodysplasia, Kaitila Type (C565400)
........expandMetaphyseal Chondrodysplasia, Pena Type (C565399)
........expandMetaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
........expandMetaphyseal Dysplasia without Hypotrichosis (C563574)
........expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
........expandMetaphyseal Dysplasia, Braun-Tinschert Type (C565271)
........expandMetaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
........expandMetatropic dwarfism (C537356)
........expandMetatropic Dwarfism, Type II (C581628)
........expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
........expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
........expandMicrocephaly-Micromelia Syndrome (C565382)
........expandMicromelic dwarfism Fryns type (C537556)
........expandMicromelic dysplasia, congenital, with dislocation of radius (C537557)
........expandMultiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
........expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
........expandNievergelt syndrome (C536120)
........expandNivelon Nivelon Mabille syndrome (C536123)
........expandOmodysplasia 2 (C567664)
........expandOmodysplasia type 1 (C537746)
........expandOpsismodysplasia (C537122)
........expandOsebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
........expandOsteoarthritis with Mild Chondrodysplasia (C565740)
........expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
........expandOsteochondroma (D015831) Child17
........expandOsteodysplasia, Familial, Anderson Type (C564923)
........expandOsteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
........expandOsteogenesis Imperfecta (D010013) Child27
........expandOsteoglophonic dwarfism (C536050)
........expandOsteosclerosis (D010026) Child36
........expandOto-Palato-digital syndrome type 1 (C536065)
........expandOto-palato-digital syndrome, type 2 (C538089)
........expandOtopalatodigital Spectrum Disorder (C567577)
........expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
........expandPelvis-Shoulder Dysplasia (C566811)
........expandPierre Robin syndrome with fetal chondrodysplasia (C535776)
........expandPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
........expandPolydysspondyly (C565150)
........expandPubic Bone Dysplasia (C566735)
........expandPycnodysostosis (D058631)
........expandPyle disease (C536252)
........expandRoifman syndrome (C535866)
........expandSchaefer Stein Oshman syndrome (C536627)
........expandSchimke immunoosseous dysplasia (C536629)
........expandSchneckenbecken dysplasia (C536637)
........expandShort Rib-Polydactyly Syndrome (D012779) Child3
........expandShort stature syndrome, Brussels type (C537121)
........expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
........expandSketetal dysplasia coarse facies mental retardation (C536671)
........expandSlipped Capital Femoral Epiphyses (D060048)
........expandSmith-McCort Dysplasia (C564589)
........expandSpinal Dysplasia, Anhalt Type (C563348)
........expandSpondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
........expandSpondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
........expandSpondylodysplasia And Premature Pubarche (C567552)
........expandSpondyloenchondrodysplasia (C535782)
........expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
........expandSpondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
........expandSpondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
........expandSpondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
........expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
........expandSpondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
........expandSpondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
........expandSpondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
........expandSpondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
........expandSpondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
........expandSpondyloepimetaphyseal dysplasia, sponastrime type (C535786)
........expandSpondyloepimetaphyseal Dysplasia, X-Linked (C564714)
........expandSpondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
........expandSpondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
........expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
........expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
........expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
........expandSpondyloepiphyseal dysplasia tarda, Toledo type (C535787)
........expandSpondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
........expandSpondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
........expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
........expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
........expandSpondyloepiphyseal dysplasia, congenita (C535788)
........expandSpondyloepiphyseal Dysplasia, Kimberley Type (C564252)
........expandSPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
........expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
........expandSpondyloepiphyseal dysplasia, Omani type (C535789) Child1
........expandSpondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
........expandSpondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
........expandSpondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
........expandSpondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
........expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
........expandSpondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
........expandSpondylometaphyseal dysplasia, 'corner fracture' type (C535793)
........expandSpondylometaphyseal dysplasia, Algerian type (C535794)
........expandSpondylometaphyseal dysplasia, axial (C535795)
........expandSpondylometaphyseal dysplasia, east-African type (C535796)
........expandSpondylometaphyseal dysplasia, Kozlowski type (C535797)
........expandSpondylometaphyseal dysplasia, Sedaghatian type (C535798)
........expandSpondylometaphyseal Dysplasia, Type A4 (C563803)
........expandSpondylometaphyseal Dysplasia, X-Linked (C563124)
........expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
........expandSPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
........expandSpondyloperipheral dysplasia short ulna (C535799)
........expandSpondylospinal Thoracic Dysostosis (C566622)
........expandStrudwick syndrome (C537501)
........expandStuve-Wiedemann syndrome (C537502)
........expandTeebi Naguib Al Awadi syndrome (C536949)
........expandTer Haar syndrome (C537274)
........expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
........expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
........expandThoracolaryngopelvic dysplasia (C536517)
........expandTracheobronchopathia osteoplastica (C536977)
........expandTrichoscyphodysplasia (C536557)
........expandUlna metaphyseal dysplasia syndrome (C536935)
........expandUpington disease (C536472)
........expandVan Buchem disease type 2 (C536527)
........expandVerloes Bourguignon syndrome (C536538)
........expandVerloes Van Maldergem Marneffe syndrome (C536540)
........expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
........expandWolcott-Rallison syndrome (C536739)



 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:8383
Name:Osteochondrodysplasias
Definition:Abnormal development of cartilage and bone.
Alternative IDs:OMIM:239100|OMIM:255800|OMIM:309350
ParentIDs:MESH:D001848
TreeNumbers:C05.116.099.708
Synonyms:Buchem Diseases, Van |Buchem Disease, Van |Chondrodystrophic Myotonia |Chondrodystrophic Myotonias |Chondrodystrophies, Myotonic |Chondrodystrophy, Myotonic |Diseases, Van Buchem |Disease, Van Buchem |Dyschondroplasia |Dyschondroplasias |Dysplasia, Multiple Epiphy
Slim Mappings:Musculoskeletal disease
Reference: MedGen: D010009
MeSH: D010009
OMIM: 239100;

Genes: FLNA; HSPG2; SOST;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004437Cranial hyperostosis
3 HP:0006824Cranial nerve paralysis
4 HP:0003155Elevated circulating alkaline phosphatase concentration
5 HP:0002315Headache
6 HP:0000365Hearing impairment
7 HP:0011001Increased bone mineral density
8 HP:0007958Optic atrophy from cranial nerve compression
9 HP:0000935Thickened cortex of long bones
Disease Causing ClinVar Variants