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:
Abnormal upper limb bone morphology (HP:0040070)

Grandparent Node:
Abnormality of the upper arm (HP:0001454)

Parent Node:
Abnormal enchondral ossification (HP:0003336)

Parent Node:
Abnormality of the humerus (HP:0003063)

..Starting node
..Abnormal humeral ossification (HP:0012791)

Term ID:

12791

Name:

Abnormal humeral ossification

Synonym:

Abnormal maturation of long bone in upper arm

Definition:

An anomaly of the process of formation of bone in the humerus.

Comments:

Reference:

HP:0012791

Genes and Diseases:

Child Nodes:

........

Absent humeral epiphyseal ossification (HP:0003892)

........

Irregular ossification of the humeral epiphyses (HP:0003897)

................... HP:0003902 Epiphyseal stippling of the humerus
................... HP:0004997 Multicentric ossification of proximal humeral epiphyses

........

Irregular ossification of humeral metaphyses (HP:0003914)

Sister Nodes:

Abnormal humeral metaphysis morphology (HP:0003907)

Abnormal humerus morphology (HP:0031095)

Abnormality of the humeral epiphysis (HP:0003891)

Aplasia/hypoplasia of the humerus (HP:0006507)

Humeral sclerosis (HP:0003881)

Humeroradial synostosis (HP:0003041)

Osteoporotic humerus (HP:0003876)

Periosteal new bone of humerus (HP:0003878)

Scapulohumeral synostosis (HP:0006595)

Triangular humerus (HP:0003884)

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:0012791	HP:0012791	Abnormal humeral ossification	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0012791	HP:0012791	Abnormal humeral ossification	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0012791	HP:0003914	Irregular ossification of humeral metaphyses	1	CL E G H
HP:0012791	HP:0003892	Absent humeral epiphyseal ossification	1	CL E G H
HP:0012791	HP:0003897	Irregular ossification of the humeral epiphyses	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0012791	HP:0003897	Irregular ossification of the humeral epiphyses	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0012791	HP:0004997	Multicentric ossification of proximal humeral epiphyses	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0012791	HP:0003902	Epiphyseal stippling of the humerus	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233

Genes (2) :DYM FLNB

Diseases (2) :OMIM:223800 ORPHA:56305

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