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 long bone morphology (HP:0011314)

Parent Node:
Abnormal epiphysis morphology (HP:0005930)

..Starting node
..Epiphyseal deformities of tubular bones (HP:0003053)

Term ID:

3053

Name:

Epiphyseal deformities of tubular bones

Synonym:

Definition:

Comments:

Reference:

HP:0003053

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Abnormal limb epiphysis morphology (HP:0006505)

Abnormality of vertebral epiphysis morphology (HP:0100734)

Absent epiphyses (HP:0010577)

Bracket epiphyses (HP:0010578)

Cone-shaped epiphysis (HP:0010579)

Delayed epiphyseal ossification (HP:0002663)

Enlarged epiphyses (HP:0010580)

Epiphyseal dysplasia (HP:0002656)

Epiphyseal stippling (HP:0010655)

Epiphyseal streaking (HP:0004990)

Flattened epiphysis (HP:0003071)

Fragmented epiphyses (HP:0100168)

Irregular epiphyses (HP:0010582)

Ivory epiphyses (HP:0010583)

Multinucleated giant chondrocytes in epiphyseal cartilage (HP:0030330)

Premature epimetaphyseal fusion (HP:0010588)

Pseudoepiphyses (HP:0010584)

Small epiphyses (HP:0010585)

Splayed epiphyses (HP:0200003)

Triangular epiphyses (HP:0010587)

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:0003053	HP:0003053	Epiphyseal deformities of tubular bones	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0003053	HP:0003053	Epiphyseal deformities of tubular bones	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003053	HP:0003053	Epiphyseal deformities of tubular bones	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003053	HP:0006172	Flattened, squared-off epiphyses of tubular bones	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284

Genes (3) :COL2A1 GALNS GLB1

Diseases (3) :OMIM:156550 OMIM:253000 OMIM:253010

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