has material basis in germline mutation in GUCY1A1 digestive system disorder Moyamoya disease with early-onset achalasia https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6743 https://www.malacards.org/card/moyamoya_disease_6_with_or_without_achalasia https://www.malacards.org/card/moyamoya_disease_with_early_onset_achalasia Orphanet:401945 OMIM:615750 MEDGEN:816733 MONDO:0014331 SCTID:718551002 UMLS:C3810403 MYMY6 moyamoya 6 with achalasia Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. Moyamoya disease 6 with achalasia GARD:0017664 Moyamoya disease