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Ontology Browser
Term:
lysosomal storage disease with skeletal involvement (EFO:MONDO:0800088)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
skeletal dysplasia +     
2q37 microdeletion syndrome 
abnormal mineralization disorder +  
acheiria +  
acromelic dysplasia +  
acromesomelic dysplasia +  
adactyly of foot +  
amniotic band syndrome +  
apodia +  
autosomal dominant osteosclerosis, Worth type 
autosomal recessive cutis laxa type 2 +  
bent bone dysplasia +  
bird headed-dwarfism, Montreal type 
bone dysplasia, lethal Holmgren type 
brachydactyly-elbow wrist dysplasia syndrome 
Bruck syndrome 
calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 
Camurati-Engelmann disease 
carpotarsal osteochondromatosis 
Catel-Manzke syndrome 
cerebrocostomandibular syndrome 
cheirospondyloenchondromatosis 
chondrodysplasia punctata +  
chondroectodermal dysplasia with night blindness 
chondromalacia patellae 
cleidocranial dysplasia 1 
cleidorhizomelic syndrome 
Cole-Carpenter syndrome 
colobomatous microphthalmia-rhizomelic dysplasia syndrome 
complex lethal osteochondrodysplasia 
congenital absence of both forearm and hand +  
congenital absence of both lower leg and foot +  
congenital absence of thigh and lower leg with foot present +  
congenital absence of upper arm and forearm with hand present 
coxopodopatellar syndrome 
craniofrontonasal syndrome 
craniometadiaphyseal dysplasia, wormian bone type 
craniotubular dysplasia, Ikegawa type 
Currarino triad 
delayed membranous cranial ossification 
diaphyseal medullary stenosis-bone malignancy syndrome 
dyschondrosteosis-nephritis syndrome 
dysplasia epiphysealis hemimelica 
dysplasia of head of femur, Meyer type 
dysspondyloenchondromatosis 
Eiken syndrome 
familial osteodysplasia, Anderson type 
FGFR3-related chondrodysplasia +  
fibrochondrogenesis +  
fibular aplasia-ectrodactyly syndrome 
filamin-related bone disorder +  
genitopatellar syndrome 
genochondromatosis +  
ghosal hematodiaphyseal dysplasia 
Hartsfield-Bixler-Demyer syndrome 
hyperostosis corticalis generalisata 
Langer mesomelic dysplasia 
Larsen-like osseous dysplasia-short stature syndrome 
Larsen-like syndrome, B3GAT3 type 
Lenz-Majewski hyperostotic dwarfism 
Leri-Weill dyschondrosteosis +  
lethal chondrodysplasia, Seller type 
lethal Kniest-like dysplasia 
LRP5-related primary osteoporosis 
lysosomal storage disease with skeletal involvement +  
Marshall-Smith syndrome 
McCune-Albright syndrome 
melorheostosis with osteopoikilosis 
mesomelia-synostoses syndrome 
mesomelic dwarfism, Nievergelt type 
mesomelic dwarfism, Reinhardt-Pfeiffer type 
mesomelic dwarfism-cleft palate-camptodactyly syndrome 
mesomelic dysplasia, Kantaputra type +  
mesomelic dysplasia, Savarirayan type 
metaphyseal acroscyphodysplasia 
metaphyseal anadysplasia 
metaphyseal chondrodysplasia, Jansen type 
metaphyseal chondrodysplasia, Kaitila type 
metaphyseal chondrodysplasia, Spahr type 
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 
metaphyseal dysplasia, Braun-Tinschert type 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 
microcephalic primordial dwarfism due to ZNF335 deficiency 
multiple epiphyseal dysplasia +  
multiple metaphyseal dysplasia 
neonatal osteosclerotic dysplasia +  
non-syndromic limb reduction defect +  
oculodentodigital dysplasia +  
Ollier disease 
omodysplasia +  
osteogenesis imperfecta and a reduction of bone mineral density. +   
osteopetrosis +  
pancreatic insufficiency-anemia-hyperostosis syndrome 
parietal foramina +  
parietal foramina with cleidocranial dysplasia 
pelvic dysplasia-arthrogryposis of lower limbs syndrome 
polydactyly-syndactyly-triphalangism +  
primary bone dysplasia with increased bone density 
primary bone dysplasia with multiple joint dislocations 
primary osteolysis +  
primordial dwarfism and slender bone disorder +  
Proteus syndrome 
pseudoachondroplasia 
pseudodiastrophic dysplasia 
pyknoachondrogenesis 
Pyle disease 
rhizomelic dysplasia, Ain-Naz type 
rhizomelic dysplasia, Patterson-Lowry type 
rhizomelic syndrome, Urbach type 
Richieri Costa-Pereira syndrome 
Robinow syndrome +  
Schmid metaphyseal chondrodysplasia 
short rib dysplasia +  
SHOX-related short stature 
skeletal dysplasia-epilepsy-short stature syndrome 
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 
Sotos syndrome 
split hand-foot malformation 1 with sensorineural hearing loss 
spondylodysplastic dysplasia +  
spondyloepimetaphyseal dysplasia +  
spondyloepiphyseal dysplasia +  
spondylometaphyseal dysplasia +  
sulfation-related bone disorder 
syndromic craniosynostosis +  
synpolydactyly +  
tall stature-scoliosis-macrodactyly of the great toes syndrome 
Tatton-Brown-Rahman overgrowth syndrome 
thin ribs-tubular bones-dysmorphism syndrome 
tricho-dento-osseous syndrome 
TRIP11-related skeletal dysplasia +  
TRPV4-related bone disorder +  
type 2 collagenopathy +  
ulna metaphyseal dysplasia syndrome 
upper limb mesomelic dysplasia 
Weaver syndrome 
Yunis-Varon syndrome 

Synonyms
Exact Synonyms: dysostosis multiplex
Alternate IDs: MONDO:0800088
Xrefs: GARD:19203 ;   ICD9:756.9 ;   ORDO:93448 ;   SCTID:254069004 ;   SCTID:279081001

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