Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 bone structure (HP:0003330)

Parent Node:
Abnormal trabecular bone morphology (HP:0100671)

..Starting node
..Coarse metaphyseal trabecularization (HP:0100670)

Term ID:

100670

Name:

Coarse metaphyseal trabecularization

Synonym:

Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone

Definition:

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.

Comments:

Reference:

HP:0100670

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sparse bone trabeculae (HP:0002752)

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:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent	34
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	72
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	44
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0100670	HP:0100670	Coarse metaphyseal trabecularization	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40

Genes (23) :AMER1 CTC1 DKC1 NHP2 NOP10 NOTCH2 NPM1 PARN PLCB3 PORCN RTEL1 SLC29A3 TCIRG1 TERC TERT TINF2 TNFRSF11A TNFRSF11B TRPV4 TYMS USB1 VDR WRAP53

Diseases (9) :ORPHA:2780 ORPHA:1775 ORPHA:955 OMIM:618961 ORPHA:2092 ORPHA:1782 ORPHA:2801 ORPHA:2635 ORPHA:93160

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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