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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypertrichosis
Comorbidity C0011854|insulin dependent diabetes mellitus
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PubMedID- 20140240 Additionally, another study has recently described germline slc29a3 mutations in an autosomal recessive disorder, phid (pigmented hypertrichosis with insulin dependent diabetes mellitus) syndrome, which is characterized by the childhood onset of pigmented hypertrichotic skin lesions associated with a high risk of insulin-dependent diabetes mellitus [11].

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