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 of the phalanges of the hand (HP:0005920)

Grandparent Node:
Cone-shaped epiphysis (HP:0010579)

Parent Node:
Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)

..Starting node
..Cone-shaped epiphyses of phalanges 2 to 5 (HP:0006035)

Term ID:

6035

Name:

Cone-shaped epiphyses of phalanges 2 to 5

Synonym:

Cone-shaped end part of digital bones 2 to 5

Definition:

Comments:

Reference:

HP:0006035

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cone-shaped epiphyses of the 2nd finger (HP:0009490)

Cone-shaped epiphyses of the 3rd finger (HP:0009412)

Cone-shaped epiphyses of the 4th finger (HP:0009395)

Cone-shaped epiphyses of the 5th finger (HP:0009384)

Cone-shaped epiphyses of the distal phalanges of the hand (HP:0010248)

Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259)

Cone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270)

Cone-shaped epiphysis of the thumb (HP:0009688)

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:0006035	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0006035	HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137

Genes (2) :EVC EVC2

Diseases (1) :OMIM:225500

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