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 cage morphology (HP:0001547)

Parent Node:
Abnormal rib morphology (HP:0000772)

..Starting node
..Horizontal ribs (HP:0000888)

Term ID:

888

Name:

Horizontal ribs

Synonym:

Horizontal ribs

Definition:

A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.

Comments:

Reference:

HP:0000888

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)

Multiple rib fractures (HP:0006640)

Prominent floating ribs (HP:0006641)

Rib exostoses (HP:0000896)

Rib fusion (HP:0000902)

Rib gap (HP:0030280)

Rib segmentation abnormalities (HP:0006655)

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:0000888	HP:0000888	Horizontal ribs	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0000888	HP:0000888	Horizontal ribs	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0000888	HP:0000888	Horizontal ribs	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000888	HP:0000888	Horizontal ribs	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0000888	HP:0000888	Horizontal ribs	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0000888	HP:0000888	Horizontal ribs	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0000888	HP:0000888	Horizontal ribs	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	.
HP:0000888	HP:0000888	Horizontal ribs	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly		7
HP:0000888	HP:0000888	Horizontal ribs	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0000888	HP:0000888	Horizontal ribs	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0000888	HP:0000888	Horizontal ribs	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0000888	HP:0000888	Horizontal ribs	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000888	HP:0000888	Horizontal ribs	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000888	HP:0000888	Horizontal ribs	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0000888	HP:0000888	Horizontal ribs	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0000888	HP:0000888	Horizontal ribs	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0000888	HP:0000888	Horizontal ribs	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136

Genes (17) :ABCD4 CCDC8 CEP120 COL2A1 CUL7 DYNC2H1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 IFT81 INTU LBR NEK1 OBSL1 WDR35

Diseases (14) :OMIM:614857 ORPHA:2616 OMIM:616300 OMIM:200610 OMIM:613091 OMIM:615633 OMIM:617088 OMIM:617405 OMIM:225500 OMIM:617895 OMIM:617925 OMIM:618019 OMIM:263520 OMIM:613610

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen