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- Bfad1f8eef9689bc961e5e88a5073e343 hasDbXref "Orphanet:1253" @default.
- Bfad1f8eef9689bc961e5e88a5073e343 type Axiom @default.
- Bfad1f8eef9689bc961e5e88a5073e343 annotatedProperty IAO_0000115 @default.
- Bfad1f8eef9689bc961e5e88a5073e343 annotatedSource MONDO_0007198 @default.
- Bfad1f8eef9689bc961e5e88a5073e343 annotatedTarget "Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported." @default.