Al Gazali Khidr Prem Chandran syndrome
http://purl.obolibrary.org/obo/MONDO_0021838
A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder. [ PMID:8281276 https://orcid.org/0000-0001-5208-3432 ]
Term info
- GARD:0000586 (MONDO:equivalentTo)
- UMLS:C2930951 (MONDO:equivalentTo)
- MESH:C535616 (MONDO:equivalentTo)
gard_rare, n_of_one
A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. 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/C2930951, http://identifiers.org/mesh/C535616
cherubism, optic atrophy and short stature
MONDO:0021838
https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome