MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandprimary bone dysplasia (MONDO:0018230)
..Starting node
..expandprimary bone dysplasia with defective bone mineralization ()

       Child Nodes:
........expanddisorders of vitamin D metabolism ()
........expanddominant hypophosphatemia with nephrolithiasis or osteoporosis ()
........expandEiken syndrome ()
........expandfamilial hypocalciuric hypercalcemia ()
........expandhypophosphatasia ()
........expandlipodystrophy-intellectual disability-deafness syndrome ()
........expandneonatal severe primary hyperparathyroidism ()
........expandossification anomalies-psychomotor developmental delay syndrome ()
........expandprimary bone dysplasia with decreased bone density ()
........expandprimary bone dysplasia with increased bone density ()
........expandSteel syndrome ()



 Sister Nodes: 
..expandacrocoxomesomelic dysplasia ()
..expandacromelic dysplasia ()
..expandacromesomelic dysplasia ()
..expandbent bone dysplasia ()
..expandbone dysplasia corpus callosum agenesis ()
..expandbone dysplasia Moore type ()
..expandchondrodysplasia punctata ()
..expandcleidocranial dysplasia and isolated cranial ossification defect ()
..expandlethal chondrodysplasia ()
..expandmesomelic and rhizo-mesomelic dysplasia ()
..expandmultiple epiphyseal dysplasia and pseudoachondroplasia ()
..expandmultiple metaphyseal dysplasia ()
..expandosteofibrous dysplasia ()
..expandotopalatodigital syndrome spectrum disorder ()
..expandovergrowth or tall stature syndrome with skeletal involvement ()
..expandprimary bone dysplasia with defective bone mineralization ()
..expandprimary bone dysplasia with disorganized development of skeletal components ()
..expandprimary bone dysplasia with micromelia ()
..expandprimary bone dysplasia with multiple joint dislocations ()
..expandprimary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments ()
..expandprimary osteolysis ()
..expandshort rib dysplasia ()
..expandshort stature-advanced bone age-early-onset osteoarthritis syndrome ()
..expandskeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome ()
..expandslender bone dysplasia ()
..expandspondylodysplastic dysplasia ()
..expandspondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia ()
..expandspondylometaphyseal dysplasia ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19705
Name:primary bone dysplasia with defective bone mineralization
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:primary osteodysplasia with defective bone mineralization; primary skeletal dysplasia with defective bone mineralization
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal