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 epiphysis morphology (HP:0005930)

Parent Node:
Abnormality of femoral epiphysis (HP:0006499)

Parent Node:
Irregular epiphyses (HP:0010582)

..Starting node
..Irregular femoral epiphysis (HP:0006361)

Term ID:

6361

Name:

Irregular femoral epiphysis

Synonym:

Irregular thighbone end part

Definition:

Comments:

Reference:

HP:0006361

Genes and Diseases:

Child Nodes:

........

Irregular capital femoral epiphysis (HP:0005041)

........

Irregular distal femoral epiphysis (HP:0006407)

Sister Nodes:

Fragmented, irregular epiphyses (HP:0005063)

Irregular epiphyses of the toes (HP:0010167)

Irregular epiphyses of the upper limbs (HP:0003842)

Irregular proximal tibial epiphyses (HP:0006456)

Irregular radial epiphyses (HP:0004004)

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:0006361	HP:0006361	Irregular femoral epiphysis	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	RPL13 CL E G H	6137	10303	OMIM:618728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0006361	HP:0006361	Irregular femoral epiphysis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0006361	HP:0005041	Irregular capital femoral epiphysis	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0006361	HP:0006407	Irregular distal femoral epiphysis	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006361	HP:0006407	Irregular distal femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0006361	HP:0005041	Irregular capital femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0006361	HP:0005041	Irregular capital femoral epiphysis	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0006361	HP:0005041	Irregular capital femoral epiphysis	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0006361	HP:0005041	Irregular capital femoral epiphysis	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0006361	HP:0005041	Irregular capital femoral epiphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (10) :ADAMTSL2 CDC6 COL11A1 COL2A1 COL9A1 PEX5 RNU4ATAC RPL13 TRPV4 UFSP2

Diseases (12) :OMIM:231050 OMIM:613805 OMIM:154780 OMIM:108300 OMIM:614135 OMIM:614134 OMIM:616716 ORPHA:353298 OMIM:616651 OMIM:618728 OMIM:184252 OMIM:142669

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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