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pyrroline-5-carboxylate reductase 1 deficiency
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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PYCR1-related de Barsy syndrome
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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cutis laxa, autosomal recessive, type 3B
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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cutis laxa, autosomal recessive, type IIIB
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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cutis laxa, autosomal recessive, type IIIB; ARCL3B
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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autosomal recessive cutis laxa type IIIB
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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de Barsy syndrome caused by mutation in PYCR1
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http://purl.obolibrary.org/obo/MONDO_0013755 |
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