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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal axial skeleton morphology (HP:0009121)

..Starting node
..Supernumerary bones of the axial skeleton (HP:0009144)

Term ID:

9144

Name:

Supernumerary bones of the axial skeleton

Synonym:

Definition:

Comments:

Reference:

HP:0009144

Genes and Diseases:

Child Nodes:

........

Supernumerary vertebrae (HP:0002946)

................... HP:0008416 Six lumbar vertebrae

........

Supernumerary ribs (HP:0005815)

................... HP:0000891 Cervical ribs

Sister Nodes:

Abnormal skull morphology (HP:0000929)

Abnormal thorax morphology (HP:0000765)

Abnormality of the vertebral column (HP:0000925)

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

Disproportionate short-trunk short stature (HP:0003521)

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:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0009144	HP:0009144	Supernumerary bones of the axial skeleton	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0009144	HP:0005815	Supernumerary ribs	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0009144	HP:0005815	Supernumerary ribs	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0009144	HP:0005815	Supernumerary ribs	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0009144	HP:0005815	Supernumerary ribs	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009144	HP:0005815	Supernumerary ribs	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0009144	HP:0002946	Supernumerary vertebrae	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0009144	HP:0005815	Supernumerary ribs	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0009144	HP:0005815	Supernumerary ribs	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0009144	HP:0005815	Supernumerary ribs	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009144	HP:0002946	Supernumerary vertebrae	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009144	HP:0005815	Supernumerary ribs	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009144	HP:0002946	Supernumerary vertebrae	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009144	HP:0002946	Supernumerary vertebrae	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009144	HP:0005815	Supernumerary ribs	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009144	HP:0005815	Supernumerary ribs	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0009144	HP:0005815	Supernumerary ribs	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0009144	HP:0005815	Supernumerary ribs	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0009144	HP:0005815	Supernumerary ribs	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0009144	HP:0005815	Supernumerary ribs	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009144	HP:0005815	Supernumerary ribs	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0009144	HP:0002946	Supernumerary vertebrae	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0009144	HP:0005815	Supernumerary ribs	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0009144	HP:0005815	Supernumerary ribs	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0009144	HP:0005815	Supernumerary ribs	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0009144	HP:0005815	Supernumerary ribs	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0009144	HP:0005815	Supernumerary ribs	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0009144	HP:0005815	Supernumerary ribs	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009144	HP:0005815	Supernumerary ribs	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0009144	HP:0005815	Supernumerary ribs	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009144	HP:0005815	Supernumerary ribs	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009144	HP:0005815	Supernumerary ribs	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0009144	HP:0005815	Supernumerary ribs	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0009144	HP:0005815	Supernumerary ribs	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0009144	HP:0005815	Supernumerary ribs	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0009144	HP:0005815	Supernumerary ribs	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0009144	HP:0005815	Supernumerary ribs	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0009144	HP:0005815	Supernumerary ribs	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.	19
HP:0009144	HP:0000891	Cervical ribs	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0009144	HP:0000891	Cervical ribs	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0009144	HP:0000891	Cervical ribs	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0009144	HP:0000891	Cervical ribs	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0009144	HP:0000891	Cervical ribs	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0009144	HP:0008416	Six lumbar vertebrae	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009144	HP:0008416	Six lumbar vertebrae	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009144	HP:0000891	Cervical ribs	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009144	HP:0000891	Cervical ribs	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009144	HP:0008416	Six lumbar vertebrae	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009144	HP:0000891	Cervical ribs	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0009144	HP:0000891	Cervical ribs	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0009144	HP:0000891	Cervical ribs	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009144	HP:0000891	Cervical ribs	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0009144	HP:0000891	Cervical ribs	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009144	HP:0000891	Cervical ribs	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009144	HP:0000891	Cervical ribs	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0009144	HP:0000891	Cervical ribs	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12

Genes (28) :ACTB AFF3 ANK1 ANKRD11 DHODH GATA6 GDF11 GPC3 GPC4 IFT57 IKBKG MAF MTX2 NIPBL PAX3 PTCH1 PTCH2 PUF60 RBM8A RPS26 RUNX2 SF3B2 SIX6 SKI SON SOX2 SUFU TBX6

Diseases (29) :ORPHA:64755 OMIM:619297 ORPHA:251066 OMIM:148050 ORPHA:2332 OMIM:263750 OMIM:600001 ORPHA:2255 OMIM:619122 OMIM:312870 OMIM:617927 ORPHA:464 OMIM:308300 ORPHA:1272 OMIM:619127 OMIM:122470 OMIM:193500 OMIM:109400 ORPHA:508488 OMIM:274000 ORPHA:3320 OMIM:613309 OMIM:119600 OMIM:164210 OMIM:206900 OMIM:182212 ORPHA:500150 OMIM:617140 OMIM:122600

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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