eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | holoprosencephaly |
| Comorbidity | C0008924|cleft lip |
| Sentences | 3 |
| PubMedID- 25291088 | Rare disease: lobar holoprosencephaly with a median cleft lip-case report. |
| PubMedID- 23812909 | Background: harstfield syndrome is the rare and unique association of holoprosencephaly (hpe) and ectrodactyly, with or without cleft lip and palate, and variable additional features. |
| PubMedID- 25772309 | Dominant or recessive mutations in fgfr1 that are likely loss-of-function are found in harstfield syndrome (holoprosencephaly and ectrodactyly, with or without cleft lip and palate)560 (table3(a)). |
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