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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Abnormalities, Multiple (D000015)
Parent Node:
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Bone Diseases, Developmental (D001848)
..Starting node
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Kyphomelic dysplasia (C538128)

       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:6155
Name:Kyphomelic dysplasia
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D001848
TreeNumbers:C05.116.099/C538128 |C16.131.077/C538128
Synonyms:Bowing, congenital, with short bones
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538128
MeSH: C538128
OMIM: 211350;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000907Anterior rib cupping
3 HP:0003865Bowed humerus
4 HP:0000175Cleft palate
5 HP:0000204Cleft upper lip
6 HP:0005280Depressed nasal bridge
7 HP:0003498Disproportionate short stature
8 HP:0005009Dumbbell-shaped humerus
9 HP:0002980Femoral bowing
10 HP:0003015Flared metaphysis
11 HP:0003180Flat acetabular roof
12 HP:0012368Flat face
13 HP:0000348High forehead
14 HP:0000895Lateral clavicle hook
15 HP:0001376Limitation of joint mobility
16 HP:0000369Low-set ears
17 HP:0000347Micrognathia
18 HP:0002983Micromelia
19 HP:0000926Platyspondyly
20 HP:0001059Pterygium
21 HP:0002986Radial bowing
22 HP:0003097Short femur
23 HP:0005792Short humerus
24 HP:0010049Short metacarpal
25 HP:0001762Talipes equinovarus
26 HP:0005257Thoracic hypoplasia
27 HP:0002982Tibial bowing
28 HP:0003031Ulnar bowing
29 HP:0010561Undulate ribs
Disease Causing ClinVar Variants