Human Phenotype Ontology 
Grandparent Node:
expandMode of inheritance (HP:0000005)help
Parent Node:
expandSomatic mutation (HP:0001428)help
..Starting node
..expandSomatic mosaicism (HP:0001442)help
Term ID: 1442
Name: Somatic mosaicism
Synonym:
Definition: The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.
Comments:
Reference: HP:0001442
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001442HP:0001442Somatic mosaicism0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0001442HP:0001442Somatic mosaicism0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0001442HP:0001442Somatic mosaicism0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0001442HP:0001442Somatic mosaicism0FGFR3 CL E G H22613690OMIM:162900Epidermal nevus, somatic145
HP:0001442HP:0001442Somatic mosaicism0GNAI2 CL E G H27714385OMIM:192605Ventricular tachycardia, familial4
HP:0001442HP:0001442Somatic mosaicism0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0001442HP:0001442Somatic mosaicism0HRAS CL E G H32655173OMIM:162900Epidermal nevus, somatic113
HP:0001442HP:0001442Somatic mosaicism0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0001442HP:0001442Somatic mosaicism0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001442HP:0001442Somatic mosaicism0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0001442HP:0001442Somatic mosaicism0NRAS CL E G H48937989OMIM:162900Epidermal nevus, somatic102
HP:0001442HP:0001442Somatic mosaicism0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0001442HP:0001442Somatic mosaicism0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi162
HP:0001442HP:0001442Somatic mosaicism0PIK3CA CL E G H52908975OMIM:162900Epidermal nevus, somatic162
HP:0001442HP:0001442Somatic mosaicism0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0001442HP:0001442Somatic mosaicism0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm.27
HP:0001442HP:0001442Somatic mosaicism0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22


Genes (14) :ADA DICER1 FGFR1 FGFR3 GNAI2 GNAS HRAS IL6ST KRAS NRAS PIK3CA RHOA SLC35A2 SMO

Diseases (12) :OMIM:102700 OMIM:618272 OMIM:613001 OMIM:162900 OMIM:192605 OMIM:174800 OMIM:163200 OMIM:619750 OMIM:612918 OMIM:618727 OMIM:300896 OMIM:601707
 

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