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:
Enlarged epiphyses (HP:0010580)

..Starting node
..Bulging epiphyses (HP:0003013)

Term ID:

3013

Name:

Bulging epiphyses

Synonym:

Bulging end part of bone

Definition:

A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).

Comments:

Reference:

HP:0003013

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged epiphyses of the phalanges of the hand (HP:0010231)

Enlarged epiphyses of the toes (HP:0010165)

Enlarged metacarpal epiphyses (HP:0006134)

Enlargement of the proximal femoral epiphysis (HP:0003371)

Large humeral epiphyses (HP:0003898)

Large radial epiphyses (HP:0004005)

Wide epiphyses of the upper limbs (HP:0003904)

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:0003013	HP:0003013	Bulging epiphyses	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0003013	HP:0003013	Bulging epiphyses	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0003013	HP:0003013	Bulging epiphyses	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003013	HP:0003013	Bulging epiphyses	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0003013	HP:0003013	Bulging epiphyses	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0003013	HP:0003013	Bulging epiphyses	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 (6) :OMIM:300009 OMIM:300554 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.