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:
Abnormality of chromosome stability (HP:0003220)

Parent Node:
Chromosome breakage (HP:0040012)

..Starting node
..Folate-dependent fragile site at Xq28 (HP:0003564)

Term ID:

3564

Name:

Folate-dependent fragile site at Xq28

Synonym:

Definition:

The presence of a folate sensitive fragile site at chromosome Xq28.

Comments:

Reference:

HP:0003564

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chromosomal breakage induced by crosslinking agents (HP:0003221)

Chromosomal breakage induced by ionizing radiation (HP:0010997)

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:0003564	HP:0003564	Folate-dependent fragile site at Xq28	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0003564	HP:0003564	Folate-dependent fragile site at Xq28	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0003564	HP:0003564	Folate-dependent fragile site at Xq28	0	TMEM185A CL E G H	84548	17125	ORPHA:100974	FRAXF syndrome		3

Genes (2) :FMR1 TMEM185A

Diseases (3) :OMIM:300624 ORPHA:908 ORPHA:100974

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