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 musculature of the limbs (HP:0009127)

Grandparent Node:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

Parent Node:
Abnormality of the musculature of the thigh (HP:0001441)

Parent Node:
Aplasia/Hypoplasia involving the musculature of the extremities (HP:0009128)

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

Term ID:

9786

Name:

Aplasia/Hypoplasia of the musculature of the thigh

Synonym:

Absent/small thigh muscles; Absent/underdeveloped thigh muscles

Definition:

Absence or underdevelopment involving the musculature of the thigh.

Comments:

Reference:

HP:0009786

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the quadriceps (HP:0009787)

................... HP:0009788 Quadriceps aplasia

Sister Nodes:

Aplasia/Hypoplasia involving the musculature of the upper limbs (HP:0001467)

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:0009786	HP:0009786	Aplasia/Hypoplasia of the musculature of the thigh	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0009786	HP:0009787	Aplasia/Hypoplasia of the quadriceps	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0009786	HP:0009788	Quadriceps aplasia	2	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.