Aloi Tomasini Isaia syndrome
http://purl.obolibrary.org/obo/MONDO_0021845
A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder. [ PMID:2715453 https://orcid.org/0000-0001-5208-3432 ]
Term info
- MESH:C537049 (MONDO:equivalentTo)
- UMLS:C2931405 (MONDO:equivalentTo)
- GARD:0000417 (MONDO:equivalentTo)
- GARD:0000831 (MONDO:equivalentTo)
gard_rare, n_of_one
https://github.com/monarch-initiative/mondo/issues/3700
A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://linkedlifedata.com/resource/umls/id/C2931405, http://identifiers.org/mesh/C537049
basal cell nevus anodontia abnormal bone mineralization
basal cell nevus, anodontia, abnormal bone mineralization, unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization
MONDO:0021845
https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome