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:
Aplasia/Hypoplasia of the musculature of the thigh (HP:0009786)

Parent Node:
Aplasia of the musculature (HP:0100854)

Parent Node:
Aplasia/Hypoplasia of the quadriceps (HP:0009787)

..Starting node
..Quadriceps aplasia (HP:0009788)

Term ID:

9788

Name:

Quadriceps aplasia

Synonym:

Absent quads

Definition:

Absence of the quadriceps muscle.

Comments:

Reference:

HP:0009788

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009788	HP:0009788	Quadriceps aplasia	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165

Genes (1) :LMX1B

Diseases (1) :OMIM:161200

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