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 upper limb joint (HP:0009810)

Parent Node:
Abnormality of the elbow (HP:0009811)

..Starting node
..Abnormality of the joint spaces of the elbow (HP:0003943)

Term ID:

3943

Name:

Abnormality of the joint spaces of the elbow

Synonym:

Abnormality of the joint spaces of the elbow

Definition:

Comments:

Reference:

HP:0003943

Genes and Diseases:

Child Nodes:

........

Narrow joint spaces of the elbow (HP:0003944)

Sister Nodes:

Abnormal elbow metaphysis morphology (HP:0003949)

Abnormality of the epiphyses of the elbow (HP:0003946)

Abnormality of the humeroradial joint (HP:0100744)

Abnormality of the humeroulnar joint (HP:0100745)

Cubitus valgus (HP:0002967)

Cubitus varus (HP:0025317)

Elbow ankylosis (HP:0003070)

Elbow dislocation (HP:0003042)

Increased carrying angle (HP:0003102)

Irregular articular surfaces of the elbow joints (HP:0003945)

Large elbow (HP:0030865)

Limited elbow movement (HP:0002996)

Osteoarthritis of the elbow (HP:0003940)

Stippled calcification of the elbow (HP:0003941)

Synostosis involving the elbow (HP:0003938)

Synovial chondromatosis of the elbow (HP:0003942)

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:0003943	HP:0003943	Abnormality of the joint spaces of the elbow	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0003943	HP:0003943	Abnormality of the joint spaces of the elbow	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0003943	HP:0003944	Narrow joint spaces of the elbow	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional

Genes (2) :GRB10 TBX15

Diseases (2) :ORPHA:96182 ORPHA:93333

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