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Standards Ontologies Notations
holoprosencephaly 7

Summary
Synonym
  • HPE7
Definition
A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
Super Class
autosomal dominant disease holoprosencephaly
External Links
Disease Ontology
DOID:0110876
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5727 PTCH1 patched 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
19206 Ptch1 patched 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
35851 ptc patched
Displaying all 2 entries
Gene ID Gene Symbol Description Source
173631 ptc-3 Protein patched homolog 3
174274 ptc-1 Protein patched homolog 1;SSD domain-containing protein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024