Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B261c2f2871f0b3b9992a164dba4c4352> ?p ?o ?g. }
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- B261c2f2871f0b3b9992a164dba4c4352 hasDbXref "Orphanet:280325" @default.
- B261c2f2871f0b3b9992a164dba4c4352 type Axiom @default.
- B261c2f2871f0b3b9992a164dba4c4352 annotatedProperty IAO_0000115 @default.
- B261c2f2871f0b3b9992a164dba4c4352 annotatedSource MONDO_0017229 @default.
- B261c2f2871f0b3b9992a164dba4c4352 annotatedTarget "Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly." @default.