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 epiphyseal ossification (HP:0010656)

Grandparent Node:
Abnormal epiphysis morphology (HP:0005930)

Parent Node:
Delayed epiphyseal ossification (HP:0002663)

..Starting node
..Delayed phalangeal epiphyseal ossification (HP:0006016)

Term ID:

6016

Name:

Delayed phalangeal epiphyseal ossification

Synonym:

Delayed bone maturation of end part of digital bone; Delayed phalangeal epiphyseal bone maturation

Definition:

Delay in the process of formation and maturation of the epiphysis of one or more phalanx.

Comments:

Reference:

HP:0006016

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed proximal femoral epiphyseal ossification (HP:0008828)

Delayed upper limb epiphyseal ossification (HP:0003840)

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:0006016	HP:0006016	Delayed phalangeal epiphyseal ossification	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0006016	HP:0006016	Delayed phalangeal epiphyseal ossification	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (2) :KCNH1 KIF22

Diseases (2) :ORPHA:420561 OMIM:603546

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