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
..Undulate ribs (HP:0010561)

Term ID:

10561

Name:

Undulate ribs

Synonym:

Wavy ribs

Definition:

An abnormally wavy surface or edge of the ribs.

Comments:

Reference:

HP:0010561

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)

Rib segmentation abnormalities (HP:0006655)

Superior rib anomalies (HP:0005820)

Supernumerary ribs (HP:0005815)

Thickened ribs (HP:0000900)

Thin ribs (HP:0000883)

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:0010561	HP:0010561	Undulate ribs	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010561	HP:0010561	Undulate ribs	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0010561	HP:0010561	Undulate ribs	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional

Genes (3) :DLK1 MEG3 RTL1

Diseases (1) :ORPHA:96334

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