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17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

MedGen UID:: 865627
•Concept ID:: C4017190
•: Finding

Synonym:	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL

Monarch Initiative:	MONDO:0800380
OMIM®:	609300

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Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR
J Biol Chem 1989 Oct 25;264(30):18076-82. PMID: 2808364

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17-alpha-hydroxylase/17,20-lyase deficiency, combined partial
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

MedGen
CN042980[trait identifier] AND "OMIM"[submitter] (20)
ClinVar
C4017190[conceptid] (1)
MedGen
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete

MedGen
CN042980[conceptid] (1)
MedGen

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