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:0002916	HP:0002916	Abnormality of chromosome segregation	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040281 - Very frequent	150
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0002916	HP:0002916	Abnormality of chromosome segregation	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0002916	HP:0200024	Premature chromatid separation	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002916	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.	86
HP:0002916	HP:0200024	Premature chromatid separation	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0002916	HP:0003352	Endopolyploidy on chromosome studies of bone marrow	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.	60
HP:0002916	HP:0200024	Premature chromatid separation	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.	2
HP:0002916	HP:0200024	Premature chromatid separation	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0002916	HP:0003616	Premature separation of centromeric heterochromatin	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92