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 rib morphology (HP:0000772)

Parent Node:
Abnormal rib ossification (HP:0012306)

..Starting node
..Irregular ossification at anterior rib ends (HP:0006598)

Term ID:

6598

Name:

Irregular ossification at anterior rib ends

Synonym:

Definition:

Comments:

Reference:

HP:0006598

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent in utero rib ossification (HP:0006615)

Anterior rib punctate calcifications (HP:0006619)

Costal cartilage calcification (HP:0006646)

Osteosclerosis of ribs (HP:0006634)

Precocious costochondral ossification (HP:0006607)

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:0006598	HP:0006598	Irregular ossification at anterior rib ends	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0006598	HP:0006598	Irregular ossification at anterior rib ends	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0006598	HP:0006598	Irregular ossification at anterior rib ends	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.

Genes (3) :DNAJC21 SBDS SRP54

Diseases (1) :OMIM:260400

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