Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 long bone morphology (HP:0011314)

Grandparent Node:
Aplasia/hypoplasia of the extremities (HP:0009815)

Parent Node:
Phocomelia (HP:0009829)

..Starting node
..Tetraphocomelia (HP:0030721)

Term ID:

30721

Name:

Tetraphocomelia

Synonym:

Definition:

Phocomelia involving all four extremities.

Comments:

Reference:

HP:0030721

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower limb phocomelia (HP:0009819)

Upper limb phocomelia (HP:0009813)

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:0030721	HP:0030721	Tetraphocomelia	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0030721	HP:0030721	Tetraphocomelia	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70

Genes (2) :ESCO2 LBR

Diseases (2) :OMIM:268300 OMIM:215140

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