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
..Beaded ribs (HP:0000923)

Term ID:

923

Name:

Beaded ribs

Synonym:

Definition:

The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.

Comments:

Reference:

HP:0000923

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)

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)

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:0000923	HP:0000923	Beaded ribs	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0000923	HP:0000923	Beaded ribs	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0000923	HP:0000923	Beaded ribs	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0000923	HP:0000923	Beaded ribs	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000923	HP:0000923	Beaded ribs	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217
HP:0000923	HP:0000923	Beaded ribs	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0000923	HP:0000923	Beaded ribs	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000923	HP:0000923	Beaded ribs	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133

Genes (8) :COL1A1 COL1A2 CREB3L1 LBR PHEX PPIB TAPT1 TRIP11

Diseases (7) :OMIM:166210 OMIM:616229 OMIM:215140 ORPHA:89936 OMIM:259440 OMIM:616897 OMIM:200600

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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