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 upper limb joint (HP:0009810)

Parent Node:
Abnormality of the wrist (HP:0003019)

..Starting node
..Madelung deformity (HP:0003067)

Term ID:

3067

Name:

Madelung deformity

Synonym:

Madelung wrist deformity

Definition:

An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.

Comments:

Reference:

HP:0003067

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)

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:0003067	HP:0003067	Madelung deformity	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	.	52
HP:0003067	HP:0003067	Madelung deformity	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0003067	HP:0003067	Madelung deformity	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0003067	HP:0003067	Madelung deformity	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0003067	HP:0003067	Madelung deformity	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0003067	HP:0003067	Madelung deformity	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0003067	HP:0003067	Madelung deformity	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0003067	HP:0003067	Madelung deformity	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0003067	HP:0003067	Madelung deformity	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66

Genes (4) :GDF5 GJA1 NIN SHOX

Diseases (9) :OMIM:113100 ORPHA:2710 ORPHA:319675 OMIM:614851 OMIM:249700 ORPHA:2632 ORPHA:240 OMIM:127300 ORPHA:314795

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