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:0002696	HP:0002696	Abnormal parietal bone morphology	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina		45
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0002696	HP:0002696	Abnormal parietal bone morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0002696	HP:0002697	Parietal foramina	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0002696	HP:0002697	Parietal foramina	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0002696	HP:0002697	Parietal foramina	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0002696	HP:0002697	Parietal foramina	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	132
HP:0002696	HP:0002697	Parietal foramina	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002696	HP:0002697	Parietal foramina	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002696	HP:0002697	Parietal foramina	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	102
HP:0002696	HP:0002697	Parietal foramina	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0002696	HP:0000242	Parietal bossing	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0002696	HP:0000242	Parietal bossing	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0002696	HP:0000242	Parietal bossing	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	HP:0040283 - Occasional	196
HP:0002696	HP:0000242	Parietal bossing	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0002696	HP:0000242	Parietal bossing	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0002696	HP:0002697	Parietal foramina	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0002696	HP:0002697	Parietal foramina	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.	45
HP:0002696	HP:0002697	Parietal foramina	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia		45
HP:0002696	HP:0002697	Parietal foramina	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent	2
HP:0002696	HP:0000242	Parietal bossing	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002696	HP:0002697	Parietal foramina	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0002696	HP:0000242	Parietal bossing	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0002696	HP:0000242	Parietal bossing	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0002696	HP:0000242	Parietal bossing	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0002696	HP:0000242	Parietal bossing	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0002696	HP:0002697	Parietal foramina	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0002696	HP:0000242	Parietal bossing	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002696	HP:0000242	Parietal bossing	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0002696	HP:0002697	Parietal foramina	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18