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Cortisone reductase deficiency 1
cortisone reductase deficiency that has material basis in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36
Pronunciation
/ˈkɔrdəˌsoʊn riˈdəkˌteɪz dəˈfɪʃənsi 1/
/ˈkɔːtɪzəʊn rɪˈdʌkteɪz dɪˈfɪʃənsi 1/
Categories
autosomal recessive disease
genetic disease
rare disease