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:0040163	HP:0040163	Abnormal pelvis bone morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis		78
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	222
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome		58
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia		133
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0040163	HP:0040163	Abnormal pelvis bone morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0040163	HP:0041233	Fractured ilium	1	CL E G H
HP:0040163	HP:0010779	Large pelvis bone	1	CL E G H
HP:0040163	HP:0010453	Pelvic bone asymmetry	1	CL E G H
HP:0040163	HP:0003276	Pelvic bone exostoses	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0040163	HP:0003278	Square pelvis bone	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0040163	HP:0003275	Narrow pelvis bone	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0040163	HP:0003275	Narrow pelvis bone	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0040163	HP:0003275	Narrow pelvis bone	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0040163	HP:0003278	Square pelvis bone	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0040163	HP:0003278	Square pelvis bone	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0040163	HP:0003276	Pelvic bone exostoses	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0040163	HP:0003276	Pelvic bone exostoses	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0040163	HP:0003275	Narrow pelvis bone	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0040163	HP:0003275	Narrow pelvis bone	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0040163	HP:0003275	Narrow pelvis bone	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0040163	HP:0003275	Narrow pelvis bone	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0040163	HP:0003275	Narrow pelvis bone	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0040163	HP:0003275	Narrow pelvis bone	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0040163	HP:0003275	Narrow pelvis bone	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0040163	HP:0003275	Narrow pelvis bone	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0040163	HP:0003275	Narrow pelvis bone	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0040163	HP:0003275	Narrow pelvis bone	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0040163	HP:0003278	Square pelvis bone	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040282 - Frequent	133
HP:0040163	HP:0002826	Halberd-shaped pelvis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0040163	HP:0002826	Halberd-shaped pelvis	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214
HP:0040163	HP:0002826	Halberd-shaped pelvis	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214