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

Parent Node:
Amelia (HP:0009827)

..Starting node
..Tetraamelia (HP:0003057)

Term ID:

3057

Name:

Tetraamelia

Synonym:

Tetra-amelia

Definition:

Amelia of all four limbs.

Comments:

Reference:

HP:0003057

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amelia involving the lower limbs (HP:0009818)

Amelia involving the upper limbs (HP:0009812)

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:0003057	HP:0003057	Tetraamelia	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0003057	HP:0003057	Tetraamelia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0003057	HP:0003057	Tetraamelia	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent	12

Genes (2) :RSPO2 WNT3

Diseases (2) :ORPHA:3301 OMIM:273395

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