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
..Bifid ribs (HP:0000892)

Term ID:

892

Name:

Bifid ribs

Synonym:

Cleft ribs; Split ribs

Definition:

A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.

Comments:

Reference:

HP:0000892

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)

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:0000892	HP:0000892	Bifid ribs	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0000892	HP:0000892	Bifid ribs	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0000892	HP:0000892	Bifid ribs	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0000892	HP:0000892	Bifid ribs	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0000892	HP:0000892	Bifid ribs	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000892	HP:0000892	Bifid ribs	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000892	HP:0000892	Bifid ribs	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000892	HP:0000892	Bifid ribs	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0000892	HP:0000892	Bifid ribs	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000892	HP:0000892	Bifid ribs	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000892	HP:0000892	Bifid ribs	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000892	HP:0000892	Bifid ribs	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0000892	HP:0000892	Bifid ribs	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0000892	HP:0000892	Bifid ribs	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0000892	HP:0000892	Bifid ribs	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000892	HP:0000892	Bifid ribs	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent	6
HP:0000892	HP:0000892	Bifid ribs	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0000892	HP:0000892	Bifid ribs	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional

Genes (17) :CASZ1 GABRD HSPG2 KCNAB2 LUZP1 MMP23B PDPN PRDM16 PRKCZ PTCH1 PTCH2 RERE SKI SPEN SUFU TMCO1 UBE4B

Diseases (4) :ORPHA:1606 OMIM:109400 ORPHA:1394 OMIM:213980

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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