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 sternum morphology (HP:0000766)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Aplasia/Hypoplasia of the sternum (HP:0006714)

..Starting node
..Short sternum (HP:0000879)

Term ID:

879

Name:

Short sternum

Synonym:

Hypoplastic sternum; Short sternum

Definition:

Decreased inferosuperior length of the sternum.

Comments:

Reference:

HP:0000879

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent sternal ossification (HP:0006628)

Asternia (HP:0010308)

Premature sternal synostosis (HP:0006590)

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:0000879	HP:0000879	Short sternum	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000879	HP:0000879	Short sternum	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000879	HP:0000879	Short sternum	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000879	HP:0000879	Short sternum	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000879	HP:0000879	Short sternum	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000879	HP:0000879	Short sternum	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000879	HP:0000879	Short sternum	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000879	HP:0000879	Short sternum	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000879	HP:0000879	Short sternum	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0000879	HP:0000879	Short sternum	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000879	HP:0000879	Short sternum	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional	16
HP:0000879	HP:0000879	Short sternum	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare	16
HP:0000879	HP:0000879	Short sternum	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000879	HP:0000879	Short sternum	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33

Genes (13) :ARID1B BUB1B GPC3 GPC4 LAMA5 LRP2 NFIX NIPBL NOG PCGF2 RBM10 SETBP1 TMEM231

Diseases (13) :OMIM:135900 OMIM:257300 OMIM:312870 OMIM:620076 OMIM:222448 OMIM:602535 OMIM:122470 OMIM:186500 OMIM:618371 OMIM:311900 ORPHA:2886 OMIM:269150 ORPHA:2752

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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