Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal patella morphology (HP:0003045)

Grandparent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Aplasia/Hypoplasia of the patella (HP:0006498)

..Starting node
..Patellar hypoplasia (HP:0003065)

Term ID:

3065

Name:

Patellar hypoplasia

Synonym:

Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap

Definition:

Underdevelopment of the patella.

Comments:

Reference:

HP:0003065

Genes and Diseases:

Child Nodes:

Sister Nodes:

Patellar aplasia (HP:0006443)

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:0003065	HP:0003065	Patellar hypoplasia	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0003065	HP:0003065	Patellar hypoplasia	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0003065	HP:0003065	Patellar hypoplasia	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0003065	HP:0003065	Patellar hypoplasia	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0003065	HP:0003065	Patellar hypoplasia	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0003065	HP:0003065	Patellar hypoplasia	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0003065	HP:0003065	Patellar hypoplasia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003065	HP:0003065	Patellar hypoplasia	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:0003065	HP:0003065	Patellar hypoplasia	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0003065	HP:0003065	Patellar hypoplasia	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0003065	HP:0003065	Patellar hypoplasia	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0003065	HP:0003065	Patellar hypoplasia	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0003065	HP:0003065	Patellar hypoplasia	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0003065	HP:0003065	Patellar hypoplasia	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0003065	HP:0003065	Patellar hypoplasia	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0003065	HP:0003065	Patellar hypoplasia	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0003065	HP:0003065	Patellar hypoplasia	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5

Genes (13) :ANAPC1 GJB2 GJB6 LMX1B ORC6 PITX1 PRMT7 RECQL4 SOX9 STXBP1 TBX4 UBR7 ZSWIM6

Diseases (15) :ORPHA:221008 ORPHA:477 ORPHA:495818 OMIM:161200 ORPHA:2614 OMIM:613803 OMIM:119800 ORPHA:464288 OMIM:218600 ORPHA:221016 OMIM:114290 ORPHA:261279 OMIM:147891 OMIM:619189 ORPHA:1827

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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