Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Mode of inheritance (HP:0000005)

Parent Node:
Genetic anticipation (HP:0003743)

..Starting node
..Genetic anticipation with paternal anticipation bias (HP:0003744)

Term ID:

3744

Name:

Genetic anticipation with paternal anticipation bias

Synonym:

Paternal anticipation bias

Definition:

A type of genetic anticipation observed predominantly upon transmission from affected males.

Comments:

Reference:

HP:0003744

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003744	HP:0003744	Genetic anticipation with paternal anticipation bias	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0003744	HP:0003744	Genetic anticipation with paternal anticipation bias	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8

Genes (2) :ATXN1 ATXN7

Diseases (2) :OMIM:164400 OMIM:164500

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