Human Phenotype Ontology

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
..Sparse bone trabeculae (HP:0002752)

Term ID:

2752

Name:

Sparse bone trabeculae

Synonym:

Definition:

Comments:

Reference:

HP:0002752

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coarse metaphyseal trabecularization (HP:0100670)

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:0002752	HP:0002752	Sparse bone trabeculae	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002752	HP:0002752	Sparse bone trabeculae	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002752	HP:0002752	Sparse bone trabeculae	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002752	HP:0002752	Sparse bone trabeculae	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002752	HP:0002752	Sparse bone trabeculae	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002752	HP:0002752	Sparse bone trabeculae	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002752	HP:0002752	Sparse bone trabeculae	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002752	HP:0002752	Sparse bone trabeculae	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (5) :CLCN5 CYP27B1 CYP2R1 SLC34A3 VDR

Diseases (7) :OMIM:300009 OMIM:300554 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:241530 OMIM:277440

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.