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:
Abnormality of the middle phalanges of the toes (HP:0010183)

Grandparent Node:
Short toe (HP:0001831)

Parent Node:
Short middle phalanx of toe (HP:0003795)

..Starting node
..2nd-5th toe middle phalangeal hypoplasia (HP:0008083)

Term ID:

8083

Name:

2nd-5th toe middle phalangeal hypoplasia

Synonym:

Underdeveloped 2nd-5th middle toe bones

Definition:

Comments:

Reference:

HP:0008083

Genes and Diseases:

Child Nodes:

Sister Nodes:

Shortening of all middle phalanges of the toes (HP:0006239)

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:0008083	HP:0008083	2nd-5th toe middle phalangeal hypoplasia	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25

Genes (1) :HOXD13

Diseases (1) :OMIM:186000

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