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:
Flattened epiphysis (HP:0003071)

..Starting node
..Flattened femoral epiphysis (HP:0030289)

Term ID:

30289

Name:

Flattened femoral epiphysis

Synonym:

Flattended end part of thigh bone

Definition:

An abnormal flattening of an epiphysis of femur.

Comments:

Reference:

HP:0030289

Genes and Diseases:

Child Nodes:

........

Flat capital femoral epiphysis (HP:0003370)

........

Flat distal femoral epiphysis (HP:0006398)

Sister Nodes:

Flattened humeral epiphyses (HP:0003895)

Flattened knee epiphyses (HP:0005715)

Flattened radial epiphyses (HP:0004002)

Flattened, squared-off epiphyses of tubular bones (HP:0006172)

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:0030289	HP:0030289	Flattened femoral epiphysis	0	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type		34
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma		57
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4		166
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension		55
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0030289	HP:0030289	Flattened femoral epiphysis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	ACAN CL E G H	176	319	OMIM:608361	Spondyloepiphyseal dysplasia, Kimberley type	.	34
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0030289	HP:0006398	Flat distal femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.	57
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0030289	HP:0003370	Flat capital femoral epiphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (13) :ACAN CCN6 COL2A1 COL9A1 GNPTG KIF22 SLC26A2 SLC39A13 TBX4 TONSL TRPS1 TRPV4 UFSP2

Diseases (20) :OMIM:608361 ORPHA:1159 OMIM:609162 ORPHA:166011 OMIM:271700 OMIM:614135 OMIM:614134 OMIM:252605 OMIM:603546 ORPHA:93360 OMIM:226900 ORPHA:93307 OMIM:612350 ORPHA:157965 OMIM:147891 ORPHA:93357 OMIM:271510 OMIM:190350 ORPHA:93314 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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