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bn:02383870n
Noun Concept
Categories: Proteoglycan metabolism disorders
EN
Spondyloepimetaphyseal dysplasia, Pakistani type  BCYM4  BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES  BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4  Semd, Pakistani Type
EN
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2. Wikipedia
Definitions
Relations
Sources
EN
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2. Wikipedia
Spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence Wikidata
IS A
rare disease
Spondyloepimetaphyseal dysplasia
autosomal recessive disease
GENETIC ASSOCIATION
PAPSS2
Wikipedia
EN
Spondyloepimetaphyseal dysplasia, Pakistani type
Wikidata
EN
spondyloepimetaphyseal dysplasia, Pakistani type
Wikidata Alias
EN
BCYM4, BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4, Semd, Pakistani Type, Spondylodysplasia and Premature Pubarche, Spondyloepimetaphyseal Dysplasia, Pakistani Type, spondyloepimetaphyseal dysplasia Pakistani type

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