Defects in CDH3 are the cause of hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]. HJMD is a rare autosomal recessive disorder characterized by early hair loss heralding severe degenerative changes of the retinal macula and culminating in blindness during the second to third decade of life.
| Subject | Predicate | Object | Context |
|---|---|---|---|
| http://purl.uniprot.org/SHA... | rdf:type | uniprot:Disease_Annotation | lld:uniprot |
| http://purl.uniprot.org/SHA... | rdfs:comment | Defects in CDH3 are the cause of hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]. HJMD is a rare autosomal recessive disorder characterized by early hair loss heralding severe degenerative changes of the retinal macula and culminating in blindness during the second to third decade of life. | lld:uniprot |
| uniprot-protein:P22223 | uniprot:annotation | http://purl.uniprot.org/SHA... | lld:uniprot |
| http://linkedlifedata.com/r... | rdf:subject | http://purl.uniprot.org/SHA... | lld:uniprot |