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:
Abnormality of the costochondral junction (HP:0000919)

..Starting node
..Wide-cupped costochondral junctions (HP:0000910)

Term ID:

910

Name:

Wide-cupped costochondral junctions

Synonym:

Definition:

Comments:

Reference:

HP:0000910

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bulging of the costochondral junction (HP:0000893)

Costochondral joint sclerosis (HP:0006623)

Costochondral pain (HP:0006649)

Enlargement of the costochondral junction (HP:0000920)

Irregular chondrocostal junctions (HP:0006606)

Precocious costochondral ossification (HP:0006607)

Progressive calcification of costochondral cartilage (HP:0006600)

Rachitic rosary (HP:0000897)

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:0000910	HP:0000910	Wide-cupped costochondral junctions	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0000910	HP:0000910	Wide-cupped costochondral junctions	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145

Genes (1) :FGFR3

Diseases (2) :OMIM:187600 OMIM:187601

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