hypotrichosis 1

Summary
Synonym
  • Hhs
  • Hts
  • Hypt1
  • hereditary generalized hypotrichosis simplex
Definition
A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.
Super Class
autosomal dominant disease hypotrichosis
Disease Ontology
DOID:0110698
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6635 SNRPE small nuclear ribonucleoprotein polypeptide E
147495 APCDD1 APC down-regulated 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
494504 Apcdd1 adenomatosis polyposis coli down-regulated 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
447402 apcdd1.L adenomatosis polyposis coli down-regulated 1 L homeolog Xenopus laevis (African clawed frog)
448576 apcdd1 adenomatosis polyposis coli down-regulated 1 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0001596 Alopecia
HP:0002231 Sparse body hair
HP:0000653 Sparse eyelashes
HP:0008070 Sparse hair
HP:0002209 Sparse scalp hair
Displaying all 2 entries
Gene ID Gene Symbol Description
200879 LIPH lipase H
4047 LSS lanosterol synthase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024