Search on: SCHWARTZ-JAMPEL SYNDROME 
Descriptors Found: 1
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Descriptor English:   Osteochondrodysplasias 
Descriptor Spanish:   Osteocondrodisplasias 
Descriptor Portuguese:   Osteocondrodisplasias 
Synonyms English:   Chondrodystrophic Myotonia
Chondrodystrophy, Myotonic
Dyschondroplasia
Dyschondroplasias
Dysplasia, Spondyloepiphyseal
Endosteal Hyperostosis, Autosomal Recessive
Hyperostosis Corticalis Generalisata
Hyperphosphatasemia Tarda
Late Onset Spondyloepiphyseal Dysplasia
Late Spondyloepiphyseal Dysplasia
Late-Onset Spondyloepiphyseal Dysplasia
Melnick Needles Osteodysplasty
Melnick Needles Syndrome
Melnick-Needles Osteodysplasty
Melnick-Needles Syndrome
Multiple Epiphyseal Dysplasia
Myotonia, Chondrodystrophic
Myotonic Chondrodystrophy
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
Osteochondrodysplasia
Osteodysplasty of Melnick and Needles
Osteodysplasty, Melnick-Needles
SED Tarda
SED, X-Linked
SEDT, X-Linked
SJA Syndrome
Schwartz Jampel Aberfeld syndrome
Schwartz Jampel Syndrome
Schwartz Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel-Aberfeld Syndrome
Sost Sclerosing Bone Dysplasia
Sost-Related Sclerosing Bone Dysplasia
Spondylo-Epimetaphyseal Dysplasia With Myotonia
Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia Tarda, X Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia, Late
Spondyloepiphyseal Dysplasia, Late-Onset
Syndrome, Schwartz-Jampel-Aberfeld
Van Buchem Disease
X Linked SED
X Linked SEDT
X Linked Spondyloepiphyseal Dysplasia Tarda
X-Linked SED
X-Linked SEDT
X-Linked Spondyloepiphyseal Dysplasia Tarda  
Tree Number:   C05.116.099.708
C16.320.728
Definition English:   Abnormal development of cartilage and bone. 
History Note English:   85; DYSCHONDRODYSPLASIAS was heading DYSCHONDROPLASIA 1963-84; SPONDYLOEPIPHYSEAL DYSPLASIA was see MUCOPOLYSACCHARIDOSIS 4 1980-84, was see ECCENTROOSTEOCHONDRODYSPLASIA 1968-79 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DG diagnostic imaging
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RT radiotherapy RH rehabilitation
SU surgery TH therapy
UR urine VE veterinary
VI virology  
Record Number:   10187 
Unique Identifier:   D010009 

Occurrence in VHL:
 

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