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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:skeletal dysplasia
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Accession:EFO:MONDO:0018230 term browser browse the term
Definition:Any Mendelian diseases that affects growth and development of the skeleton.
Synonyms:exact_synonym: Mendelian skeletal dysplasia;   Orphanet:364526;   http://identifiers.org/medgen/98053;   http://linkedlifedata.com/resource/umls/id/C0410528;   primary bone dysplasia;   primary osteodysplasia;   primary skeletal dysplasia
 alt_id: MONDO:0018230
 xref: MEDGEN:98053;   ORDO:364526;   UMLS:C0410528


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            skeletal dysplasia 0
              2q37 microdeletion syndrome 0
              Bruck syndrome 0
              Camurati-Engelmann disease 0
              Catel-Manzke syndrome 0
              Cole-Carpenter syndrome 0
              Currarino triad 0
              Eiken syndrome 0
              FGFR3-related chondrodysplasia + 0
              Hartsfield-Bixler-Demyer syndrome 0
              LRP5-related primary osteoporosis 0
              Langer mesomelic dysplasia 0
              Larsen-like osseous dysplasia-short stature syndrome 0
              Larsen-like syndrome, B3GAT3 type 0
              Lenz-Majewski hyperostotic dwarfism 0
              Leri-Weill dyschondrosteosis + 0
              Marshall-Smith syndrome 0
              McCune-Albright syndrome 0
              Ollier disease 0
              Proteus syndrome 0
              Pyle disease 0
              Richieri Costa-Pereira syndrome 0
              Robinow syndrome + 0
              SHOX-related short stature 0
              Schmid metaphyseal chondrodysplasia 0
              Sotos syndrome 0
              TRIP11-related skeletal dysplasia + 0
              TRPV4-related bone disorder + 0
              Tatton-Brown-Rahman overgrowth syndrome 0
              Weaver syndrome 0
              Yunis-Varon syndrome 0
              abnormal mineralization disorder + 0
              acheiria + 0
              acromelic dysplasia + 0
              acromesomelic dysplasia + 0
              adactyly of foot + 0
              amniotic band syndrome + 0
              apodia + 0
              autosomal dominant osteosclerosis, Worth type 0
              autosomal recessive cutis laxa type 2 + 0
              bent bone dysplasia + 0
              bird headed-dwarfism, Montreal type 0
              bone dysplasia, lethal Holmgren type 0
              brachydactyly-elbow wrist dysplasia syndrome 0
              calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 0
              carpotarsal osteochondromatosis 0
              cerebrocostomandibular syndrome 0
              cheirospondyloenchondromatosis 0
              chondrodysplasia punctata + 0
              chondroectodermal dysplasia with night blindness 0
              chondromalacia patellae 0
              cleidocranial dysplasia 1 0
              cleidorhizomelic syndrome 0
              colobomatous microphthalmia-rhizomelic dysplasia syndrome 0
              complex lethal osteochondrodysplasia 0
              congenital absence of both forearm and hand + 0
              congenital absence of both lower leg and foot + 0
              congenital absence of thigh and lower leg with foot present + 0
              congenital absence of upper arm and forearm with hand present 0
              coxopodopatellar syndrome 0
              craniofrontonasal syndrome 0
              craniometadiaphyseal dysplasia, wormian bone type 0
              craniotubular dysplasia, Ikegawa type 0
              delayed membranous cranial ossification 0
              diaphyseal medullary stenosis-bone malignancy syndrome 0
              dyschondrosteosis-nephritis syndrome 0
              dysplasia epiphysealis hemimelica 0
              dysplasia of head of femur, Meyer type 0
              dysspondyloenchondromatosis 0
              familial osteodysplasia, Anderson type 0
              fibrochondrogenesis + 0
              fibular aplasia-ectrodactyly syndrome 0
              filamin-related bone disorder + 0
              genitopatellar syndrome 0
              genochondromatosis + 0
              ghosal hematodiaphyseal dysplasia 0
              hyperostosis corticalis generalisata 0
              lethal Kniest-like dysplasia 0
              lethal chondrodysplasia, Seller type 0
              lysosomal storage disease with skeletal involvement + 0
              melorheostosis with osteopoikilosis 0
              mesomelia-synostoses syndrome 0
              mesomelic dwarfism, Nievergelt type 0
              mesomelic dwarfism, Reinhardt-Pfeiffer type 0
              mesomelic dwarfism-cleft palate-camptodactyly syndrome 0
              mesomelic dysplasia, Kantaputra type + 0
              mesomelic dysplasia, Savarirayan type 0
              metaphyseal acroscyphodysplasia 0
              metaphyseal anadysplasia 0
              metaphyseal chondrodysplasia, Jansen type 0
              metaphyseal chondrodysplasia, Kaitila type 0
              metaphyseal chondrodysplasia, Spahr type 0
              metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0
              metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0
              metaphyseal dysplasia, Braun-Tinschert type 0
              metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 0
              microcephalic primordial dwarfism due to ZNF335 deficiency 0
              multiple epiphyseal dysplasia + 0
              multiple metaphyseal dysplasia 0
              neonatal osteosclerotic dysplasia + 0
              non-syndromic limb reduction defect + 0
              oculodentodigital dysplasia + 0
              omodysplasia + 0
              osteogenesis imperfecta and a reduction of bone mineral density. + 0
              osteopetrosis + 0
              pancreatic insufficiency-anemia-hyperostosis syndrome 0
              parietal foramina + 0
              parietal foramina with cleidocranial dysplasia 0
              pelvic dysplasia-arthrogryposis of lower limbs syndrome 0
              polydactyly-syndactyly-triphalangism + 0
              primary bone dysplasia with increased bone density 0
              primary bone dysplasia with multiple joint dislocations 0
              primary osteolysis + 0
              primordial dwarfism and slender bone disorder + 0
              pseudoachondroplasia 0
              pseudodiastrophic dysplasia 0
              pyknoachondrogenesis 0
              rhizomelic dysplasia, Ain-Naz type 0
              rhizomelic dysplasia, Patterson-Lowry type 0
              rhizomelic syndrome, Urbach type 0
              short rib dysplasia + 0
              skeletal dysplasia-epilepsy-short stature syndrome 0
              skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0
              split hand-foot malformation 1 with sensorineural hearing loss 0
              spondylodysplastic dysplasia + 0
              spondyloepimetaphyseal dysplasia + 0
              spondyloepiphyseal dysplasia + 0
              spondylometaphyseal dysplasia + 0
              sulfation-related bone disorder 0
              syndromic craniosynostosis + 0
              synpolydactyly + 0
              tall stature-scoliosis-macrodactyly of the great toes syndrome 0
              thin ribs-tubular bones-dysmorphism syndrome 0
              tricho-dento-osseous syndrome 0
              type 2 collagenopathy + 0
              ulna metaphyseal dysplasia syndrome 0
              upper limb mesomelic dysplasia 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                skeletal dysplasia 0
                  2q37 microdeletion syndrome 0
                  Bruck syndrome 0
                  Camurati-Engelmann disease 0
                  Catel-Manzke syndrome 0
                  Cole-Carpenter syndrome 0
                  Currarino triad 0
                  Eiken syndrome 0
                  FGFR3-related chondrodysplasia + 0
                  Hartsfield-Bixler-Demyer syndrome 0
                  LRP5-related primary osteoporosis 0
                  Langer mesomelic dysplasia 0
                  Larsen-like osseous dysplasia-short stature syndrome 0
                  Larsen-like syndrome, B3GAT3 type 0
                  Lenz-Majewski hyperostotic dwarfism 0
                  Leri-Weill dyschondrosteosis + 0
                  Marshall-Smith syndrome 0
                  McCune-Albright syndrome 0
                  Ollier disease 0
                  Proteus syndrome 0
                  Pyle disease 0
                  Richieri Costa-Pereira syndrome 0
                  Robinow syndrome + 0
                  SHOX-related short stature 0
                  Schmid metaphyseal chondrodysplasia 0
                  Sotos syndrome 0
                  TRIP11-related skeletal dysplasia + 0
                  TRPV4-related bone disorder + 0
                  Tatton-Brown-Rahman overgrowth syndrome 0
                  Weaver syndrome 0
                  Yunis-Varon syndrome 0
                  abnormal mineralization disorder + 0
                  acheiria + 0
                  acromelic dysplasia + 0
                  acromesomelic dysplasia + 0
                  adactyly of foot + 0
                  amniotic band syndrome + 0
                  apodia + 0
                  autosomal dominant osteosclerosis, Worth type 0
                  autosomal recessive cutis laxa type 2 + 0
                  bent bone dysplasia + 0
                  bird headed-dwarfism, Montreal type 0
                  bone dysplasia, lethal Holmgren type 0
                  brachydactyly-elbow wrist dysplasia syndrome 0
                  calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 0
                  carpotarsal osteochondromatosis 0
                  cerebrocostomandibular syndrome 0
                  cheirospondyloenchondromatosis 0
                  chondrodysplasia punctata + 0
                  chondroectodermal dysplasia with night blindness 0
                  chondromalacia patellae 0
                  cleidocranial dysplasia 1 0
                  cleidorhizomelic syndrome 0
                  colobomatous microphthalmia-rhizomelic dysplasia syndrome 0
                  complex lethal osteochondrodysplasia 0
                  congenital absence of both forearm and hand + 0
                  congenital absence of both lower leg and foot + 0
                  congenital absence of thigh and lower leg with foot present + 0
                  congenital absence of upper arm and forearm with hand present 0
                  coxopodopatellar syndrome 0
                  craniofrontonasal syndrome 0
                  craniometadiaphyseal dysplasia, wormian bone type 0
                  craniotubular dysplasia, Ikegawa type 0
                  delayed membranous cranial ossification 0
                  diaphyseal medullary stenosis-bone malignancy syndrome 0
                  dyschondrosteosis-nephritis syndrome 0
                  dysplasia epiphysealis hemimelica 0
                  dysplasia of head of femur, Meyer type 0
                  dysspondyloenchondromatosis 0
                  familial osteodysplasia, Anderson type 0
                  fibrochondrogenesis + 0
                  fibular aplasia-ectrodactyly syndrome 0
                  filamin-related bone disorder + 0
                  genitopatellar syndrome 0
                  genochondromatosis + 0
                  ghosal hematodiaphyseal dysplasia 0
                  hyperostosis corticalis generalisata 0
                  lethal Kniest-like dysplasia 0
                  lethal chondrodysplasia, Seller type 0
                  lysosomal storage disease with skeletal involvement + 0
                  melorheostosis with osteopoikilosis 0
                  mesomelia-synostoses syndrome 0
                  mesomelic dwarfism, Nievergelt type 0
                  mesomelic dwarfism, Reinhardt-Pfeiffer type 0
                  mesomelic dwarfism-cleft palate-camptodactyly syndrome 0
                  mesomelic dysplasia, Kantaputra type + 0
                  mesomelic dysplasia, Savarirayan type 0
                  metaphyseal acroscyphodysplasia 0
                  metaphyseal anadysplasia 0
                  metaphyseal chondrodysplasia, Jansen type 0
                  metaphyseal chondrodysplasia, Kaitila type 0
                  metaphyseal chondrodysplasia, Spahr type 0
                  metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0
                  metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0
                  metaphyseal dysplasia, Braun-Tinschert type 0
                  metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 0
                  microcephalic primordial dwarfism due to ZNF335 deficiency 0
                  multiple epiphyseal dysplasia + 0
                  multiple metaphyseal dysplasia 0
                  neonatal osteosclerotic dysplasia + 0
                  non-syndromic limb reduction defect + 0
                  oculodentodigital dysplasia + 0
                  omodysplasia + 0
                  osteogenesis imperfecta and a reduction of bone mineral density. + 0
                  osteopetrosis + 0
                  pancreatic insufficiency-anemia-hyperostosis syndrome 0
                  parietal foramina + 0
                  parietal foramina with cleidocranial dysplasia 0
                  pelvic dysplasia-arthrogryposis of lower limbs syndrome 0
                  polydactyly-syndactyly-triphalangism + 0
                  primary bone dysplasia with increased bone density 0
                  primary bone dysplasia with multiple joint dislocations 0
                  primary osteolysis + 0
                  primordial dwarfism and slender bone disorder + 0
                  pseudoachondroplasia 0
                  pseudodiastrophic dysplasia 0
                  pyknoachondrogenesis 0
                  rhizomelic dysplasia, Ain-Naz type 0
                  rhizomelic dysplasia, Patterson-Lowry type 0
                  rhizomelic syndrome, Urbach type 0
                  short rib dysplasia + 0
                  skeletal dysplasia-epilepsy-short stature syndrome 0
                  skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0
                  split hand-foot malformation 1 with sensorineural hearing loss 0
                  spondylodysplastic dysplasia + 0
                  spondyloepimetaphyseal dysplasia + 0
                  spondyloepiphyseal dysplasia + 0
                  spondylometaphyseal dysplasia + 0
                  sulfation-related bone disorder 0
                  syndromic craniosynostosis + 0
                  synpolydactyly + 0
                  tall stature-scoliosis-macrodactyly of the great toes syndrome 0
                  thin ribs-tubular bones-dysmorphism syndrome 0
                  tricho-dento-osseous syndrome 0
                  type 2 collagenopathy + 0
                  ulna metaphyseal dysplasia syndrome 0
                  upper limb mesomelic dysplasia 0
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