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 enchondral ossification (HP:0003336)

Grandparent Node:
Abnormal sternum morphology (HP:0000766)

Parent Node:
Abnormal sternal ossification (HP:0011863)

..Starting node
..Large sternal ossification centers (HP:0006642)

Term ID:

6642

Name:

Large sternal ossification centers

Synonym:

Large sternal ossification centres

Definition:

Comments:

Reference:

HP:0006642

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent sternal ossification (HP:0006628)

Decreased number of sternal ossification centers (HP:0006611)

Fused sternal ossification centers (HP:0006643)

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:0006642	HP:0006642	Large sternal ossification centers	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40

Genes (1) :NFIX

Diseases (1) :OMIM:602535

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