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 upper limbs (HP:0001446)

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

Parent Node:
Abnormality of the musculature of the upper arm (HP:0001457)

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

..Starting node
..Aplasia/Hypoplasia involving the musculature of the upper arm (HP:0001468)

Term ID:

1468

Name:

Aplasia/Hypoplasia involving the musculature of the upper arm

Synonym:

Absent/small upper arm muscles; Absent/underdeveloped upper arm muscles

Definition:

Absence or underdevelopment of the muscles of the upper arm.

Comments:

Reference:

HP:0001468

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the biceps (HP:0009782)

................... HP:0009007 Biceps hypoplasia
................... HP:0009783 Biceps aplasia

........

Aplasia/Hypoplasia of the triceps (HP:0009784)

................... HP:0009785 Triceps aplasia
................... HP:0100855 Triceps hypoplasia

Sister Nodes:

Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

Upper limb muscle hypoplasia (HP:0009016)

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:0001468	HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001468	HP:0009784	Aplasia/Hypoplasia of the triceps	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001468	HP:0009782	Aplasia/Hypoplasia of the biceps	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001468	HP:0100855	Triceps hypoplasia	2	CL E G H
HP:0001468	HP:0009007	Biceps hypoplasia	2	CL E G H
HP:0001468	HP:0009785	Triceps aplasia	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001468	HP:0009783	Biceps 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.