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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease h syndrome
Comorbidity C0011847|diabetes
Sentences 4
PubMedID- 22304355 [long-term results of vascular surgery of lerish syndrome in patients with type ii diabetes mellitus].
PubMedID- 24741461 In the present case, the patient suffered from secondary hypertension and diabetes due to ectopic acth syndrome and complained of fatigue and weakness.
PubMedID- 23530176 Germline mutations in the slc29a3 gene result in a range of recessive, clinically related syndromes: h syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy.
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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