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:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities		9
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040281 - Very frequent	61
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome		141
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		106
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	HP:0040283 - Occasional	21
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		67
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	TBX4 CL E G H	9496	11603	ORPHA:1509	Coxopodopatellar syndrome	HP:0040281 - Very frequent	55
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension		55
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006498	HP:0006498	Aplasia/Hypoplasia of the patella	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0006498	HP:0003065	Patellar hypoplasia	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0006498	HP:0006443	Patellar aplasia	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0006498	HP:0006443	Patellar aplasia	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0006498	HP:0006443	Patellar aplasia	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0006498	HP:0006443	Patellar aplasia	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0006498	HP:0006443	Patellar aplasia	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0006498	HP:0006443	Patellar aplasia	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0006498	HP:0006443	Patellar aplasia	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0006498	HP:0006443	Patellar aplasia	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0006498	HP:0006443	Patellar aplasia	1	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare	9
HP:0006498	HP:0006443	Patellar aplasia	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0006498	HP:0003065	Patellar hypoplasia	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0006498	HP:0003065	Patellar hypoplasia	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0006498	HP:0006443	Patellar aplasia	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0006498	HP:0006443	Patellar aplasia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0006498	HP:0006443	Patellar aplasia	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0006498	HP:0006443	Patellar aplasia	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0006498	HP:0006443	Patellar aplasia	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0006498	HP:0006443	Patellar aplasia	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	106
HP:0006498	HP:0003065	Patellar hypoplasia	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0006498	HP:0006443	Patellar aplasia	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0006498	HP:0006443	Patellar aplasia	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006498	HP:0006443	Patellar aplasia	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0006498	HP:0003065	Patellar hypoplasia	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006498	HP:0003065	Patellar hypoplasia	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0006498	HP:0006443	Patellar aplasia	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0006498	HP:0006443	Patellar aplasia	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0006498	HP:0006443	Patellar aplasia	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0006498	HP:0006443	Patellar aplasia	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0006498	HP:0006443	Patellar aplasia	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0006498	HP:0006443	Patellar aplasia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0006498	HP:0003065	Patellar hypoplasia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0006498	HP:0003065	Patellar hypoplasia	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0006498	HP:0003065	Patellar hypoplasia	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0006498	HP:0006443	Patellar aplasia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006498	HP:0003065	Patellar hypoplasia	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0006498	HP:0003065	Patellar hypoplasia	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0006498	HP:0006443	Patellar aplasia	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0006498	HP:0006443	Patellar aplasia	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	67
HP:0006498	HP:0006443	Patellar aplasia	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0006498	HP:0003065	Patellar hypoplasia	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0006498	HP:0003065	Patellar hypoplasia	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0006498	HP:0006443	Patellar aplasia	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0006498	HP:0003065	Patellar hypoplasia	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0006498	HP:0006443	Patellar aplasia	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0006498	HP:0003065	Patellar hypoplasia	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0006498	HP:0003065	Patellar hypoplasia	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0006498	HP:0006443	Patellar aplasia	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006498	HP:0003065	Patellar hypoplasia	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5