Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bafe68272900bf081d602a1b7b8804ad7> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bafe68272900bf081d602a1b7b8804ad7 hasDbXref "Orphanet:929" @default.
- Bafe68272900bf081d602a1b7b8804ad7 type Axiom @default.
- Bafe68272900bf081d602a1b7b8804ad7 annotatedProperty IAO_0000115 @default.
- Bafe68272900bf081d602a1b7b8804ad7 annotatedSource MONDO_0008699 @default.
- Bafe68272900bf081d602a1b7b8804ad7 annotatedTarget "Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed." @default.