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:
obsolete Abnormal morphology of bones of the lower limbs (HP:0040066)

Parent Node:
Abnormality of femur morphology (HP:0002823)

..Starting node
..Erlenmeyer flask deformity of the femurs (HP:0004975)

Term ID:

4975

Name:

Erlenmeyer flask deformity of the femurs

Synonym:

Erlenmeyer flask deformity of distal femur; Erlenmeyer flask femora; Erlenmeyer flask shaped thighbone

Definition:

Flaring of distal femur.

Comments:

Reference:

HP:0004975

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal femoral metaphysis morphology (HP:0006489)

Abnormal femoral neck/head morphology (HP:0003366)

Abnormal femoral torsion (HP:0031069)

Abnormality of femoral epiphysis (HP:0006499)

Aplasia/hypoplasia of the femur (HP:0005613)

Bifid femur (HP:0010443)

Club-shaped distal femur (HP:0006384)

Club-shaped proximal femur (HP:0006406)

Disproportionate prominence of the femoral medial condyle (HP:0006437)

Distal tapering femur (HP:0006408)

Dumbbell-shaped femur (HP:0006375)

Femoral bowing (HP:0002980)

Femoral spur (HP:0031171)

Femur fracture (HP:0031846)

Increased femoral anteversion (HP:0012427)

Low femoral bone density (HP:0031163)

Trapezoidal distal femoral condyles (HP:0006432)

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:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	102
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	2
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6		2
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0004975	HP:0004975	Erlenmeyer flask deformity of the femurs	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	82

Genes (8) :ABCC9 ANKH CLCN7 CSF1R GBA1 PLEKHM1 PSAP TCIRG1

Diseases (7) :OMIM:239850 OMIM:123000 ORPHA:210110 OMIM:618476 OMIM:230800 OMIM:611497 OMIM:610539

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