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:
Abnormality of the proximal tibial epiphysis (HP:0010591)

Parent Node:
Small epiphyses (HP:0010585)

..Starting node
..Small proximal tibial epiphyses (HP:0012284)

Term ID:

12284

Name:

Small proximal tibial epiphyses

Synonym:

Small end part of innermost shankbone; Small end part of innermost shinbone

Definition:

Reduced size of the proximal epiphysis of the tibia.

Comments:

Reference:

HP:0012284

Genes and Diseases:

Child Nodes:

Sister Nodes:

Small epiphyses of the metacarpals (HP:0009194)

Small epiphyses of the phalanges of the hand (HP:0010236)

Small epiphyses of the toes (HP:0010170)

Small epiphyses of the upper limbs (HP:0003844)

Small radial epiphyses (HP:0004010)

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:0012284	HP:0012284	Small proximal tibial epiphyses	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0012284	HP:0012284	Small proximal tibial epiphyses	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0012284	HP:0012284	Small proximal tibial epiphyses	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0012284	HP:0012284	Small proximal tibial epiphyses	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional

Genes (4) :COL11A1 DLK1 MEG3 RTL1

Diseases (2) :OMIM:154780 ORPHA:96334

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