Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cage morphology (HP:0001547)

Parent Node:
Abnormal rib morphology (HP:0000772)

..Starting node
..Rib segmentation abnormalities (HP:0006655)

Term ID:

6655

Name:

Rib segmentation abnormalities

Synonym:

Definition:

Comments:

Reference:

HP:0006655

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal rib ossification (HP:0012306)

Abnormality of the costochondral junction (HP:0000919)

Anomalous rib insertion to vertebrae (HP:0006593)

Aplasia/Hypoplasia of the ribs (HP:0006712)

Beaded ribs (HP:0000923)

Bifid ribs (HP:0000892)

Broad ribs (HP:0000885)

Calcification of ribs (HP:0040059)

Coat hanger sign of ribs (HP:0006665)

Cupped ribs (HP:0000887)

Flaring of rib cage (HP:0000904)

Horizontal ribs (HP:0000888)

Multiple rib fractures (HP:0006640)

Prominent floating ribs (HP:0006641)

Rib exostoses (HP:0000896)

Rib fusion (HP:0000902)

Rib gap (HP:0030280)

Superior rib anomalies (HP:0005820)

Supernumerary ribs (HP:0005815)

Thickened ribs (HP:0000900)

Thin ribs (HP:0000883)

Undulate ribs (HP:0010561)

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:0006655	HP:0006655	Rib segmentation abnormalities	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	10
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	13
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0006655	HP:0006655	Rib segmentation abnormalities	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	3

Genes (12) :CPLX1 CTBP1 DLL3 FGFRL1 HES7 LETM1 LFNG MESP2 NELFA NSD2 PIGG RIPPLY2

Diseases (3) :OMIM:194190 ORPHA:280 ORPHA:2311

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

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