Human Phenotype Ontology

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:0003172	HP:0003172	Abnormality of the pubic bone	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0003172	HP:0003172	Abnormality of the pubic bone	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type		284
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0003172	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:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0003172	HP:0003183	Wide pubic symphysis	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0003172	HP:0003183	Wide pubic symphysis	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0003172	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:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003172	HP:0003183	Wide pubic symphysis	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0003172	HP:0003183	Wide pubic symphysis	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0003172	HP:0003183	Wide pubic symphysis	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0003172	HP:0003183	Wide pubic symphysis	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0003172	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:0003172	HP:0100958	Narrow foramen obturatorium	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0003172	HP:0003183	Wide pubic symphysis	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia		18
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003172	HP:0100958	Narrow foramen obturatorium	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003172	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:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0003172	HP:0003183	Wide pubic symphysis	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003172	HP:0009105	Abnormal ossification of the pubic bone	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0003172	HP:0009104	Aplasia/Hypoplasia of the pubic bone	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0003172	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:0003172	HP:0003173	Hypoplastic pubic bone	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0003172	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:0003172	HP:0008785	Delayed ossification of pubic rami	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0003172	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:0003172	HP:0003173	Hypoplastic pubic bone	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0003172	HP:0008788	Delayed pubic bone ossification	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003172	HP:0003173	Hypoplastic pubic bone	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0003172	HP:0008817	Aplastic pubic bones	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13
HP:0003172	HP:0008822	Hypoplastic ischiopubic rami	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0003172	HP:0008830	Hypoplastic pubic rami	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0003172	HP:0008830	Hypoplastic pubic rami	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0003172	HP:0008823	Hypoplastic inferior pubic rami	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0003172	HP:0008830	Hypoplastic pubic rami	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0003172	HP:0008830	Hypoplastic pubic rami	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0003172	HP:0008830	Hypoplastic pubic rami	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0003172	HP:0008830	Hypoplastic pubic rami	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7