Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 lower limb joint (HP:0100491)

Parent Node:
Abnormality of the ankles (HP:0003028)

..Starting node
..Enlargement of the ankles (HP:0003029)

Term ID:

3029

Name:

Enlargement of the ankles

Synonym:

Enlargement of the ankles

Definition:

Comments:

Reference:

HP:0003029

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankle clonus (HP:0011448)

Ankle flexion contracture (HP:0006466)

Ankle swelling (HP:0001785)

Distal tibial bowing (HP:0006414)

Increased laxity of ankles (HP:0006460)

Limitation of movement at ankles (HP:0010505)

Talipes valgus (HP:0004684)

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:0003029	HP:0003029	Enlargement of the ankles	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0003029	HP:0003029	Enlargement of the ankles	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0003029	HP:0003029	Enlargement of the ankles	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0003029	HP:0003029	Enlargement of the ankles	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0003029	HP:0003029	Enlargement of the ankles	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0003029	HP:0003029	Enlargement of the ankles	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0003029	HP:0003029	Enlargement of the ankles	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0003029	HP:0003029	Enlargement of the ankles	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0003029	HP:0003029	Enlargement of the ankles	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0003029	HP:0003029	Enlargement of the ankles	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (7) :CLCN5 CYP27B1 CYP2R1 IDH1 MYH7 SLC34A3 VDR

Diseases (9) :OMIM:300009 OMIM:300554 ORPHA:289157 OMIM:264700 OMIM:600081 ORPHA:99646 ORPHA:437572 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen