oculotrichodysplasia https://github.com/monarch-initiative/mondo/issues/6750 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/oculotrichodysplasia Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. Orphanet:2718 MONDO:0009771 UMLS:C1850332 MEDGEN:340517 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163), and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230) OMIM:257960 oculotrichodysplasia Cecato de Lima-Pinheiro syndrome GARD:0016607 MESH:C564934 OTD icd11.foundation:1202969811 SCTID:722062004 ectodermal dysplasia syndrome