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:
Radial deviation of the hand or of fingers of the hand (HP:0009485)

Parent Node:
Radial deviation of the hand (HP:0009486)

..Starting node
..Radially deviated wrists (HP:0006190)

Term ID:

6190

Name:

Radially deviated wrists

Synonym:

Definition:

Comments:

Reference:

HP:0006190

Genes and Diseases:

Child Nodes:

Sister Nodes:

Radial club hand (HP:0004059)

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:0006190	HP:0006190	Radially deviated wrists	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0006190	HP:0006190	Radially deviated wrists	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0006190	HP:0006190	Radially deviated wrists	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0006190	HP:0006190	Radially deviated wrists	0	PITX1 CL E G H	5307	9004	OMIM:186550	Synostosis, carpal, with dysplastic elbow joints and brachydactyly	.	8

Genes (4) :COL9A1 COL9A2 COL9A3 PITX1

Diseases (2) :ORPHA:166002 OMIM:186550

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