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 aplasia (HP:0006443)

Term ID:

6443

Name:

Patellar aplasia

Synonym:

Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae

Definition:

Absence of the patella.

Comments:

Reference:

HP:0006443

Genes and Diseases:

Child Nodes:

Sister Nodes:

Patellar hypoplasia (HP:0003065)

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:0006443	HP:0006443	Patellar aplasia	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0006443	HP:0006443	Patellar aplasia	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0006443	HP:0006443	Patellar aplasia	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0006443	HP:0006443	Patellar aplasia	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0006443	HP:0006443	Patellar aplasia	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0006443	HP:0006443	Patellar aplasia	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0006443	HP:0006443	Patellar aplasia	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0006443	HP:0006443	Patellar aplasia	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0006443	HP:0006443	Patellar aplasia	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	HP:0040284 - Very rare	9
HP:0006443	HP:0006443	Patellar aplasia	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional	92
HP:0006443	HP:0006443	Patellar aplasia	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0006443	HP:0006443	Patellar aplasia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0006443	HP:0006443	Patellar aplasia	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0006443	HP:0006443	Patellar aplasia	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0006443	HP:0006443	Patellar aplasia	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0006443	HP:0006443	Patellar aplasia	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	106
HP:0006443	HP:0006443	Patellar aplasia	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0006443	HP:0006443	Patellar aplasia	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0006443	HP:0006443	Patellar aplasia	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0006443	HP:0006443	Patellar aplasia	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0006443	HP:0006443	Patellar aplasia	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0006443	HP:0006443	Patellar aplasia	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0006443	HP:0006443	Patellar aplasia	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0006443	HP:0006443	Patellar aplasia	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0006443	HP:0006443	Patellar aplasia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0006443	HP:0006443	Patellar aplasia	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006443	HP:0006443	Patellar aplasia	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0006443	HP:0006443	Patellar aplasia	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	67
HP:0006443	HP:0006443	Patellar aplasia	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0006443	HP:0006443	Patellar aplasia	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0006443	HP:0006443	Patellar aplasia	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0006443	HP:0006443	Patellar aplasia	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13

Genes (22) :ANAPC1 BHLHA9 CDC45 CDC6 CDT1 CHRNG DONSON ESCO2 GMNN KAT6B LMBR1 LMX1B ORC1 ORC4 ORC6 RBM8A RECQL4 SHH SHOX STXBP1 TBX4 WNT7A

Diseases (24) :ORPHA:221008 ORPHA:3329 ORPHA:2554 OMIM:613805 OMIM:613804 OMIM:265000 OMIM:617604 ORPHA:3103 OMIM:616835 OMIM:606170 ORPHA:85201 OMIM:135750 ORPHA:988 ORPHA:495818 OMIM:161200 ORPHA:2614 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:274000 ORPHA:221016 ORPHA:240 OMIM:147891 OMIM:228930

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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