Human Phenotype Ontology 
Grandparent Node:
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Abnormal cellular physiology (HP:0011017)help
Parent Node:
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Abnormality of chromosome segregation (HP:0002916)help
..Starting node
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Premature chromatid separation (HP:0200024)help
Term ID: 200024
Name: Premature chromatid separation
Synonym:
Definition: The presence of premature sister chromatid segregation.
Comments:
Reference: HP:0200024
Genes and Diseases:
 
       Child Nodes:
........expandPremature separation of centromeric heterochromatin (HP:0003616) help

 Sister Nodes: 
..expandEndopolyploidy on chromosome studies of bone marrow (HP:0003352) 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:0200024HP:0200024Premature chromatid separation0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0200024HP:0200024Premature chromatid separation0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0200024HP:0200024Premature chromatid separation0TRIP13 CL E G H931912307OMIM:617598Mosaic variegated aneuploidy syndrome 3.2
HP:0200024HP:0200024Premature chromatid separation0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0200024HP:0003616Premature separation of centromeric heterochromatin1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92


Genes (4) :BUB1B ESCO2 TRIP13 TSC1

Diseases (4) :OMIM:257300 OMIM:268300 OMIM:617598 OMIM:191100
 

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