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 appendicular skeleton morphology (HP:0011844)

Parent Node:
Abnormal enchondral ossification (HP:0003336)

Parent Node:
Abnormal pelvic girdle bone morphology (HP:0002644)

..Starting node
..Abnormal pelvis bone ossification (HP:0009106)

Term ID:

9106

Name:

Abnormal pelvis bone ossification

Synonym:

Abnormal maturation of the pelvis bone; Abnormal ossification involving the bones of the pelvis

Definition:

An abnormality of the formation and mineralization of any bone of the bony pelvis.

Comments:

Reference:

HP:0009106

Genes and Diseases:

Child Nodes:

........

Abnormal ossification of the pubic bone (HP:0009105)

................... HP:0008785 Delayed ossification of pubic rami
................... HP:0008788 Delayed pubic bone ossification
................... HP:0030042 Incomplete ossification of pubis

Sister Nodes:

Abnormal coccyx morphology (HP:0008519)

Abnormal greater sciatic notch morphology (HP:0010456)

Abnormal hip bone morphology (HP:0003272)

Abnormal pelvis bone morphology (HP:0040163)

Aplasia/Hypoplasia involving the pelvis (HP:0009103)

Limited hip movement (HP:0008800)

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:0009106	HP:0009106	Abnormal pelvis bone ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	304
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	65
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009106	HP:0009106	Abnormal pelvis bone ossification	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	136
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009106	HP:0009105	Abnormal ossification of the pubic bone	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent	284
HP:0009106	HP:0030042	Incomplete ossification of pubis	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0009106	HP:0008785	Delayed ossification of pubic rami	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009106	HP:0008785	Delayed ossification of pubic rami	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009106	HP:0008788	Delayed pubic bone ossification	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type

Genes (16) :COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 FGFR2 FIG4 GJB2 GJB6 GSC IFT80 LBR LEMD3 NKX3-2 RUNX2 SIK3 WDR35

Diseases (14) :ORPHA:93296 OMIM:184250 OMIM:183900 ORPHA:1856 ORPHA:93271 ORPHA:313855 OMIM:216340 ORPHA:477 OMIM:602471 ORPHA:1426 ORPHA:166119 OMIM:613330 OMIM:119600 OMIM:618162

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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