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:
Limitation of joint mobility (HP:0001376)

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

Parent Node:
Ankylosis (HP:0031013)

..Starting node
..Elbow ankylosis (HP:0003070)

Term ID:

3070

Name:

Elbow ankylosis

Synonym:

Definition:

Comments:

Reference:

HP:0003070

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankylosis of feet small joints (HP:0008090)

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:0003070	HP:0003070	Elbow ankylosis	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0003070	HP:0003070	Elbow ankylosis	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0003070	HP:0003070	Elbow ankylosis	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent	52
HP:0003070	HP:0003070	Elbow ankylosis	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0003070	HP:0003070	Elbow ankylosis	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040282 - Frequent	22
HP:0003070	HP:0003070	Elbow ankylosis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0003070	HP:0003070	Elbow ankylosis	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0003070	HP:0003070	Elbow ankylosis	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (8) :FGFR1 FGFR2 GDF5 MUSK NOG POR PTDSS1 WNT7A

Diseases (6) :OMIM:101600 ORPHA:3250 OMIM:208150 ORPHA:95699 ORPHA:2658 OMIM:276820

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