eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hypertrichosis |
| Comorbidity | C0011854|insulin-dependent diabetes |
| Sentences | 2 |
| PubMedID- 24894595 | Objectives: h syndrome and pigmented hypertrichosis with insulin-dependent diabetes mellitus (phid) had been described as two autosomal recessive disorders. |
| 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. |
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