Human Phenotype Ontology 
Grandparent Node:
expandMode of inheritance (HP:0000005)help
Parent Node:
expandAutosomal dominant inheritance (HP:0000006)help
..Starting node
..expandAutosomal dominant somatic cell mutation (HP:0001444)help
Term ID: 1444
Name: Autosomal dominant somatic cell mutation
Synonym:
Definition: Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.
Comments:
Reference: HP:0001444
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAutosomal dominant inheritance with maternal imprinting (HP:0012275) help
..expandAutosomal dominant inheritance with paternal imprinting (HP:0012274) help
..expandobsolete Autosomal dominant contiguous gene syndrome (HP:0001452) help
..expandSex-limited expression (HP:0001470) help
..expandTypically de novo (HP:0025352) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001444HP:0001444Autosomal dominant somatic cell mutation0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35


Genes (1) :UBA1

Diseases (1) :OMIM:301054
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.