Hugot JP, Chamaillard M, Zouali H, et al. : Association of NOD2 leucine-rich repeat variants with susceptibility to Crohns disease. Nature 2001; 411:599-603. PMID 11385576.  doi:10.1038/35079107. Blau EB : Autosomal dominant granulomatous disease of childhood: The naming of things. The Journal of Pediatrics 1998; 133: 322–323. PMID 9738710.  doi:10.1016/s0022-3476(98)70263-x. Miceli-Richard C, Lesage S, Rybojad M, Prieur A-M, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, and Hugot J-P: CARD15 mutations in Blau syndrome. Nature Genetics 2001; 29: 19-20. PMID 11528384.  doi:10.1038/ng720. Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, and Williams CJ: CARD15 Mutations in Familial Granulomatous Syndromes: A Study of the Original Blau Syndrome Kindred and Other Families with Large-Vessel Arteritis and Cranial Neuropathy. Arthritis and Rheumatism 2002; 46: 3041-3045. PMID 12428248.  doi:10.1002/art.10618. Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, and Punzi L; Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohns disease. RMD Open 2015; 1: e000097. PMID 26509073. PMC 4612691.  doi:10.1136/rmdopen-2015-000097. External links

Blau Syndrome in Orpha website
However a finding such as 2,3-toe syndactyly raises the index of suspicion for Smith-Lemli-Opitz Syndrome.Most open source projects that perform phenotype-driven disease or gene prioritization work with the terminology of the Human Phenotype Ontology. This controlled vocabulary can be used to describe the clinical features of a patient and is suitable for machine learning approaches. Publicly accessible databases that labs use to deposit their diagnostic findings, such as ClinVar, can be used to build knowledge graphs to explore the clinical feature space.Dysmorphic features are invariably present from birth, although some are not immediately apparent upon visual inspection. They can be divided into groups based on their origin, including malformations (abnormal development), disruptions (damage to previously normal tissue), deformations (damage caused by an outside physical force) and dysplasias (abnormal growth or organization within a tissue). Dysmorphology
Dysmorphology is the discipline of using dysmorphic features in the diagnostic workup and delineation of syndromic disorders. In the recent years advances in computer vision have also resulted in several deep learning approaches that assist geneticists in the study of the facial gestalt. == References ==