oculotrichoanal syndrome

Summary

oculotrichoanal syndrome is a developmental defect during embryogenesis^[1].

Key Facts

• oculotrichoanal syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
• oculotrichoanal syndrome's instance of is recorded as rare disease^[3].
• oculotrichoanal syndrome's instance of is recorded as class of disease^[4].
• oculotrichoanal syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome^[5].
• oculotrichoanal syndrome's subclass of is recorded as rare genetic developmental defect during embryogenesis^[6].
• oculotrichoanal syndrome's MeSH descriptor ID is recorded as C536022^[7].
• oculotrichoanal syndrome's OMIM ID is recorded as 248450^[8].
• oculotrichoanal syndrome's KEGG ID is recorded as H00686^[9].
• oculotrichoanal syndrome's Orphanet ID is recorded as 2717^[10].
• oculotrichoanal syndrome's ICD-9-CM is recorded as 759.89^[11].
• oculotrichoanal syndrome's genetic association is recorded as FREM1^[12].
• oculotrichoanal syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2717^[13].
• oculotrichoanal syndrome's UMLS CUI is recorded as C1855425^[14].
• oculotrichoanal syndrome's ICD-10-CM is recorded as Q87.8^[15].
• oculotrichoanal syndrome's GARD rare disease ID is recorded as 3395^[16].
• oculotrichoanal syndrome's Mondo ID is recorded as MONDO_0009560^[17].
• oculotrichoanal syndrome's Genetics Home Reference Conditions ID is recorded as manitoba-oculotrichoanal-syndrome^[18].
• oculotrichoanal syndrome's UniProt disease ID is recorded as DI-03215^[19].