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 rib morphology (HP:0000772)

Parent Node:
Broad ribs (HP:0000885)

..Starting node
..Spatulate ribs (HP:0012307)

Term ID:

12307

Name:

Spatulate ribs

Synonym:

Definition:

Ribs that are increased in width and taper to the posterior ends.

Comments:

Reference:

HP:0012307

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:0012307	HP:0012307	Spatulate ribs	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0012307	HP:0012307	Spatulate ribs	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0012307	HP:0012307	Spatulate ribs	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120

Genes (3) :ARSK COMP GLB1

Diseases (3) :OMIM:619698 OMIM:177170 ORPHA:79255

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