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 metaphysis morphology (HP:0000944)

Parent Node:
Metaphyseal widening (HP:0003016)

..Starting node
..Flared metaphysis (HP:0003015)

Term ID:

3015

Name:

Flared metaphysis

Synonym:

Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses

Definition:

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.

Comments:

Reference:

HP:0003015

Genes and Diseases:

Child Nodes:

........

Flared upper limb metaphysis (HP:0003849)

................... HP:0003911 Flared humeral metaphysis
................... HP:0003950 Flared elbow metaphyses
................... HP:0004018 Flared radial metaphysis

........

Flared lower limb metaphysis (HP:0030307)

................... HP:0002834 Flared femoral metaphysis
................... HP:0030308 Flared distal tibial metaphysis
................... HP:0030309 Flared distal fibular metaphysis

Sister Nodes:

Dumbbell-shaped long bone (HP:0000947)

Upper limb metaphyseal widening (HP:0003856)

Widened proximal tibial metaphyses (HP:0005028)

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:0003015	HP:0003015	Flared metaphysis	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0003015	HP:0003015	Flared metaphysis	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0003015	HP:0003015	Flared metaphysis	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0003015	HP:0003015	Flared metaphysis	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0003015	HP:0003015	Flared metaphysis	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0003015	HP:0003015	Flared metaphysis	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0003015	HP:0003015	Flared metaphysis	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0003015	HP:0003015	Flared metaphysis	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0003015	HP:0003015	Flared metaphysis	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0003015	HP:0003015	Flared metaphysis	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0003015	HP:0003015	Flared metaphysis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0003015	HP:0003015	Flared metaphysis	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0003015	HP:0003015	Flared metaphysis	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040281 - Very frequent	284
HP:0003015	HP:0003015	Flared metaphysis	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0003015	HP:0003015	Flared metaphysis	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003015	HP:0003015	Flared metaphysis	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0003015	HP:0003015	Flared metaphysis	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0003015	HP:0003015	Flared metaphysis	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0003015	HP:0003015	Flared metaphysis	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0003015	HP:0003015	Flared metaphysis	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome		4
HP:0003015	HP:0003015	Flared metaphysis	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0003015	HP:0003015	Flared metaphysis	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0003015	HP:0003015	Flared metaphysis	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003015	HP:0003015	Flared metaphysis	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0003015	HP:0003015	Flared metaphysis	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0003015	HP:0003015	Flared metaphysis	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0003015	HP:0003015	Flared metaphysis	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0003015	HP:0003015	Flared metaphysis	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0003015	HP:0003015	Flared metaphysis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0003015	HP:0003015	Flared metaphysis	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0003015	HP:0003015	Flared metaphysis	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0003015	HP:0003015	Flared metaphysis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003015	HP:0003015	Flared metaphysis	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0003015	HP:0003015	Flared metaphysis	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0003015	HP:0003015	Flared metaphysis	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003015	HP:0003015	Flared metaphysis	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0003015	HP:0003015	Flared metaphysis	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0003015	HP:0003015	Flared metaphysis	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0003015	HP:0003015	Flared metaphysis	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0003015	HP:0003015	Flared metaphysis	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0003015	HP:0003015	Flared metaphysis	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0003015	HP:0003015	Flared metaphysis	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0003015	HP:0003015	Flared metaphysis	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0003015	HP:0003015	Flared metaphysis	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0003015	HP:0003015	Flared metaphysis	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0003015	HP:0003015	Flared metaphysis	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0003015	HP:0003015	Flared metaphysis	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003015	HP:0003015	Flared metaphysis	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0003015	HP:0003015	Flared metaphysis	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0003015	HP:0003015	Flared metaphysis	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0003015	HP:0003015	Flared metaphysis	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0003015	HP:0003015	Flared metaphysis	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0003015	HP:0003015	Flared metaphysis	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0003015	HP:0003015	Flared metaphysis	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0003015	HP:0003015	Flared metaphysis	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0003015	HP:0003015	Flared metaphysis	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0003015	HP:0003015	Flared metaphysis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003015	HP:0003015	Flared metaphysis	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003015	HP:0003015	Flared metaphysis	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	.	214
HP:0003015	HP:0003015	Flared metaphysis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0003015	HP:0003015	Flared metaphysis	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0003015	HP:0030307	Flared lower limb metaphysis	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0003015	HP:0030307	Flared lower limb metaphysis	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003015	HP:0030307	Flared lower limb metaphysis	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003015	HP:0003849	Flared upper limb metaphysis	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0003015	HP:0030307	Flared lower limb metaphysis	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0003015	HP:0030307	Flared lower limb metaphysis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003015	HP:0003849	Flared upper limb metaphysis	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0003015	HP:0030309	Flared distal fibular metaphysis	2	CL E G H
HP:0003015	HP:0030308	Flared distal tibial metaphysis	2	CL E G H
HP:0003015	HP:0004018	Flared radial metaphysis	2	CL E G H
HP:0003015	HP:0003950	Flared elbow metaphyses	2	CL E G H
HP:0003015	HP:0002834	Flared femoral metaphysis	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0003015	HP:0002834	Flared femoral metaphysis	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0003015	HP:0003911	Flared humeral metaphysis	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0003015	HP:0002834	Flared femoral metaphysis	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0003015	HP:0002834	Flared femoral metaphysis	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0003015	HP:0003911	Flared humeral metaphysis	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214

Genes (48) :ALG9 B3GALT6 B3GAT3 B4GALT7 CHST3 COG4 COL10A1 COL11A2 COL2A1 COMP CYP3A4 DDR2 DDRGK1 EED ERCC1 EXOC6B EZH2 FAM111A FGFR3 FIG4 FLNA GJA1 IARS2 KIF22 LBR LIFR MAP3K7 MMP13 NANS NPR2 OSTM1 PCNT PCYT1A PEX7 POLR1A PRKG2 PTDSS1 PTH1R RMRP RUNX2 SH3PXD2B SLC39A13 TAPT1 TCIRG1 TONSL TRPV4 VAC14 XYLT1

Diseases (58) :ORPHA:79328 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 OMIM:130070 OMIM:618150 ORPHA:174 ORPHA:1427 OMIM:215150 OMIM:156550 ORPHA:93346 ORPHA:750 OMIM:177170 OMIM:619073 OMIM:271665 ORPHA:93352 OMIM:602557 OMIM:617561 OMIM:610758 OMIM:277590 OMIM:602361 OMIM:100800 OMIM:146000 OMIM:187600 OMIM:187601 ORPHA:3472 OMIM:309350 OMIM:218400 OMIM:616007 OMIM:603546 OMIM:215140 OMIM:618019 OMIM:601559 OMIM:617137 OMIM:602111 ORPHA:93356 OMIM:610442 OMIM:602875 OMIM:259720 OMIM:210720 ORPHA:85167 OMIM:215100 OMIM:616462 OMIM:619636 OMIM:151050 ORPHA:50945 OMIM:215045 OMIM:607095 OMIM:156510 OMIM:249420 OMIM:612350 OMIM:616897 OMIM:259700 ORPHA:93357 OMIM:156530 OMIM:184252 ORPHA:370930

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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