MedGen Find_IDs Find_Terms Annotation
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created at 2024-09-19 07:43:07 UTC
updated at 2024-09-23 18:19:38 UTC
MedGen CUI
Namespace: https://www.ncbi.nlm.nih.gov/medgen/
622,528 entries
Label
Id
AD-SPG9A C5568978
SPG9A C5568978
Spastic paraplegia 9 C5568978
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT C5568978
spastic paraplegia 9A, autosomal dominant C5568978
CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES C5568978
SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX C5568978
Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome C5568978
autosomal dominant complex spastic paraplegia type 9A C5568978
Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy C5568978
cataracts with motor neuronopathy, short stature and skeletal abnormalities C5568978
cataracts with motor neuronopathy, short stature, and skeletal abnormalities C5568978
Cataracts, motor neuronopathy, short stature and skeletal abnormalities C5568978
Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome C5568978
cataracts motor neuropathy-short stature-skeletal anomalies syndrome C5568978