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- B0cff6a1d67bd56a06494e3056afebee8 hasDbXref "Orphanet:434179" @default.
- B0cff6a1d67bd56a06494e3056afebee8 type Axiom @default.
- B0cff6a1d67bd56a06494e3056afebee8 annotatedProperty IAO_0000115 @default.
- B0cff6a1d67bd56a06494e3056afebee8 annotatedSource MONDO_0014413 @default.
- B0cff6a1d67bd56a06494e3056afebee8 annotatedTarget "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." @default.