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 lower limb bone morphology (HP:0040069)

Grandparent Node:
Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Parent Node:
Amelia (HP:0009827)

Parent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

..Starting node
..Amelia involving the lower limbs (HP:0009818)

Term ID:

9818

Name:

Amelia involving the lower limbs

Synonym:

Definition:

Amelia of one or both legs.

Comments:

Reference:

HP:0009818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acromelia of the lower limbs (HP:0010494)

Aplasia involving bones of the lower limbs (HP:0009817)

Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

Aplasia/hypoplasia of the femur (HP:0005613)

Aplasia/Hypoplasia of the fibula (HP:0006492)

Aplasia/Hypoplasia of the patella (HP:0006498)

Aplasia/Hypoplasia of the tibia (HP:0005772)

Lower limb phocomelia (HP:0009819)

Lower limb undergrowth (HP:0009816)

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:0009818	HP:0009818	Amelia involving the lower limbs	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2

Genes (1) :CDH11

Diseases (1) :ORPHA:1299

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