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:0001362	HP:0001362	Calvarial skull defect	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0001362	HP:0001362	Calvarial skull defect	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0001362	HP:0001362	Calvarial skull defect	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0001362	HP:0001362	Calvarial skull defect	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001362	HP:0001362	Calvarial skull defect	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0001362	HP:0001362	Calvarial skull defect	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent	177
HP:0001362	HP:0001362	Calvarial skull defect	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0001362	HP:0001362	Calvarial skull defect	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001362	HP:0001362	Calvarial skull defect	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0001362	HP:0001362	Calvarial skull defect	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0001362	HP:0001362	Calvarial skull defect	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0001362	HP:0001362	Calvarial skull defect	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0001362	HP:0001362	Calvarial skull defect	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0001362	HP:0001362	Calvarial skull defect	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0001362	HP:0001362	Calvarial skull defect	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0001362	HP:0001362	Calvarial skull defect	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0001362	HP:0001362	Calvarial skull defect	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0001362	HP:0001362	Calvarial skull defect	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0001362	HP:0001362	Calvarial skull defect	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0001362	HP:0001362	Calvarial skull defect	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040282 - Frequent	70
HP:0001362	HP:0001362	Calvarial skull defect	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001362	HP:0001362	Calvarial skull defect	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001362	HP:0001362	Calvarial skull defect	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0001362	HP:0001362	Calvarial skull defect	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0001362	HP:0001362	Calvarial skull defect	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent
HP:0001362	HP:0001362	Calvarial skull defect	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0001362	HP:0001362	Calvarial skull defect	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0001362	HP:0001362	Calvarial skull defect	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0001362	HP:0001362	Calvarial skull defect	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0001362	HP:0001362	Calvarial skull defect	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001362	HP:0001362	Calvarial skull defect	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13