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 wrist (HP:0003019)

..Starting node
..Wrist swelling (HP:0001225)

Term ID:

1225

Name:

Wrist swelling

Synonym:

Wrist swelling

Definition:

Comments:

Reference:

HP:0001225

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal carpal morphology (HP:0001191)

Decreased carpal angles of wrist (HP:0004049)

Dislocated wrist (HP:0003994)

Enlargement of the wrists (HP:0003020)

Limited wrist movement (HP:0006248)

Madelung deformity (HP:0003067)

Narrow joint spaces of wrist (HP:0004048)

Ulnar deviation of the wrist (HP:0003049)

Wrist flexion contracture (HP:0001239)

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:0001225	HP:0001225	Wrist swelling	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0001225	HP:0001225	Wrist swelling	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0001225	HP:0001225	Wrist swelling	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001225	HP:0001225	Wrist swelling	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001225	HP:0001225	Wrist swelling	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6

Genes (4) :CCN6 MAFB OCRL PRG4

Diseases (5) :ORPHA:1159 ORPHA:2774 OMIM:166300 OMIM:309000 ORPHA:2848

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