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 thorax morphology (HP:0000765)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Abnormal sternum morphology (HP:0000766)

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

..Starting node
..Aplasia/Hypoplasia of the sternum (HP:0006714)

Term ID:

6714

Name:

Aplasia/Hypoplasia of the sternum

Synonym:

Absent/small sternum; Absent/underdeveloped sternum

Definition:

Comments:

Reference:

HP:0006714

Genes and Diseases:

Child Nodes:

........

Short sternum (HP:0000879)

........

Premature sternal synostosis (HP:0006590)

........

Absent sternal ossification (HP:0006628)

........

Asternia (HP:0010308)

Sister Nodes:

Aplasia/Hypoplasia of the clavicles (HP:0006710)

Aplasia/Hypoplasia of the ribs (HP:0006712)

Aplasia/Hypoplasia of the scapulae (HP:0006713)

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:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0006714	HP:0006714	Aplasia/Hypoplasia of the sternum	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0006714	HP:0010308	Asternia	1	CL E G H
HP:0006714	HP:0006590	Premature sternal synostosis	1	CL E G H
HP:0006714	HP:0000879	Short sternum	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0006714	HP:0000879	Short sternum	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0006714	HP:0006628	Absent sternal ossification	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0006714	HP:0006628	Absent sternal ossification	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0006714	HP:0000879	Short sternum	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006714	HP:0000879	Short sternum	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006714	HP:0000879	Short sternum	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0006714	HP:0000879	Short sternum	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0006714	HP:0000879	Short sternum	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0006714	HP:0000879	Short sternum	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0006714	HP:0000879	Short sternum	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0006714	HP:0006628	Absent sternal ossification	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0006714	HP:0006628	Absent sternal ossification	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0006714	HP:0000879	Short sternum	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0006714	HP:0000879	Short sternum	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare	16
HP:0006714	HP:0000879	Short sternum	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional	16
HP:0006714	HP:0000879	Short sternum	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0006714	HP:0006628	Absent sternal ossification	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0006714	HP:0000879	Short sternum	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0006714	HP:0006628	Absent sternal ossification	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (19) :ARID1B BUB1B FIG4 FRAS1 GPC3 GPC4 LAMA5 LRP2 NFIX NIPBL NOG ORC1 ORC6 PCGF2 RBM10 SETBP1 SOX9 TMEM231 VAC14

Diseases (19) :OMIM:135900 OMIM:257300 OMIM:216340 ORPHA:3472 OMIM:219000 OMIM:312870 OMIM:620076 OMIM:222448 OMIM:602535 OMIM:122470 OMIM:186500 OMIM:224690 OMIM:613803 OMIM:618371 ORPHA:2886 OMIM:311900 OMIM:269150 OMIM:114290 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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