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 knee (HP:0002815)

Parent Node:
Absent epiphyses (HP:0010577)

..Starting node
..Absent knee epiphyses (HP:0006400)

Term ID:

6400

Name:

Absent knee epiphyses

Synonym:

Absent knee end part

Definition:

Comments:

Reference:

HP:0006400

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent epiphyses of the phalanges of the hand (HP:0010228)

Absent epiphyses of the toes (HP:0010162)

Absent metacarpal epiphyses (HP:0009196)

Absent proximal radial epiphyses (HP:0005093)

Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)

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:0006400	HP:0006400	Absent knee epiphyses	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15

Genes (1) :RNU4ATAC

Diseases (1) :OMIM:210710

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