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:
Abnormal bone structure (HP:0003330)

Parent Node:
Abnormal bone collagen fibril morphology (HP:0011862)

..Starting node
..Type 1 collagen overmodification (HP:0003784)

Term ID:

3784

Name:

Type 1 collagen overmodification

Synonym:

Definition:

Comments:

Reference:

HP:0003784

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:0003784	HP:0003784	Type 1 collagen overmodification	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43

Genes (1) :P3H1

Diseases (1) :OMIM:610915

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