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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease woolly hair
Comorbidity C0020678|hypotrichosis
Sentences 3
PubMedID- 24586639 The phenotype of mild hypotrichosis with woolly hair was restricted to the patients with the homozygous c.736t>a mutation.
PubMedID- 25386265 Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.
PubMedID- 23066499 Mutations in the lipase member h (liph) gene cause autosomal recessive hypotrichosis with woolly hair.

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