Hearing Loss Disease Portal


 
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Disease Browser
Parent Node:
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Abnormalities, Multiple (D000015)
Parent Node:
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Bone Diseases, Developmental (D001848)
..Starting node
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Mesomelic Limb Shortening and Bowing (C565404)

       Child Nodes:



 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:7102
Name:Mesomelic Limb Shortening and Bowing
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D001848
TreeNumbers:C05.116.099/C565404 |C16.131.077/C565404
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C565404
MeSH: C565404
OMIM: 249710;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006488Bowing of the arm
3 HP:0002979Bowing of the legs
4 HP:0100490Camptodactyly of finger
5 HP:0000175Cleft palate
6 HP:0005011Mesomelic arm shortening
7 HP:0004987Mesomelic leg shortening
8 HP:0000347Micrognathia
9 HP:0000278Retrognathia
Disease Causing ClinVar Variants