Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Enlargement of the wrists (HP:0003020)

Term ID:

3020

Name:

Enlargement of the wrists

Synonym:

Enlargement of the wrists

Definition:

Comments:

Reference:

HP:0003020

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal carpal morphology (HP:0001191)

Decreased carpal angles of wrist (HP:0004049)

Dislocated wrist (HP:0003994)

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)

Wrist swelling (HP:0001225)

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:0003020	HP:0003020	Enlargement of the wrists	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0003020	HP:0003020	Enlargement of the wrists	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0003020	HP:0003020	Enlargement of the wrists	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0003020	HP:0003020	Enlargement of the wrists	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0003020	HP:0003020	Enlargement of the wrists	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003020	HP:0003020	Enlargement of the wrists	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0003020	HP:0003020	Enlargement of the wrists	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0003020	HP:0003020	Enlargement of the wrists	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0003020	HP:0003020	Enlargement of the wrists	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0003020	HP:0003020	Enlargement of the wrists	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0003020	HP:0003020	Enlargement of the wrists	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (8) :AIFM1 CLCN5 CYP27B1 CYP2R1 DMP1 ENPP1 SLC34A3 VDR

Diseases (9) :ORPHA:83629 OMIM:300009 OMIM:300554 ORPHA:289157 OMIM:264700 OMIM:600081 ORPHA:289176 OMIM:241530 OMIM:277440

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

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