CUI ⟾ or DBPEDIA ⟾
Ex: C0006933 C0007102 C0007203 C3175196    or    http://dbpedia.org/resource/Nosebleed    http://dbpedia.org/resource/Leg

CUI: C0546966   Monilethrix 
Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.

rdfs:seeAlso —
http://dbpedia.org/resource/Disease C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542
http://dbpedia.org/resource/Congenital_disorder C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681
http://dbpedia.org/resource/Hair C0232407 C0018494 C0019572 C0221958 C0221961 C0423865 C0558165 C1261040 C2697452 C3669287
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Inferior_ganglion_of_vagus_nerve C0028252

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Monilethrix C0546966


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