Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0851184 (
thinning
)
11,252
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An Afrikaner kindred in South Africa had a dominantly inherited skeletal dysplasia-blindness-deafness syndrome. The affected individuals had reduced stature and a round, flattened facies. The bone changes resembled multiple epiphyseal dysplasia with additional minor abnormalities in the phalanges, femoral heads and spine.
Progressive myopia
, retinal
thinning
and crenated cataracts led to visual disturbance, while conductive deafness represented the third component of the triad. The syndromic significance of associated asteroid hyalosis is uncertain.
...
PMID:Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness. 69 54
