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:
Abnormal skull morphology (HP:0000929)

Parent Node:
Abnormal foramen magnum morphology (HP:0002699)

..Starting node
..Small foramen magnum (HP:0002677)

Term ID:

2677

Name:

Small foramen magnum

Synonym:

Foramen magnum stenosis; Hypoplasia of foramen magnum; Little foramen magnum; Narrow foramen magnum; Stenosis of foramen magnum

Definition:

An abnormal narrowing of the foramen magnum.

Comments:

Reference:

HP:0002677

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large foramen magnum (HP:0002700)

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:0002677	HP:0002677	Small foramen magnum	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002677	HP:0002677	Small foramen magnum	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0002677	HP:0002677	Small foramen magnum	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002677	HP:0002677	Small foramen magnum	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002677	HP:0002677	Small foramen magnum	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002677	HP:0002677	Small foramen magnum	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0002677	HP:0002677	Small foramen magnum	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0002677	HP:0002677	Small foramen magnum	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0002677	HP:0002677	Small foramen magnum	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002677	HP:0002677	Small foramen magnum	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002677	HP:0002677	Small foramen magnum	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0002677	HP:0002677	Small foramen magnum	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0002677	HP:0002677	Small foramen magnum	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002677	HP:0002677	Small foramen magnum	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2

Genes (11) :ALDH18A1 CHD4 ELN FBLN5 FGFR3 FLNB HNRNPH1 IARS2 INPPL1 LBR RSPRY1

Diseases (12) :ORPHA:90348 OMIM:616603 OMIM:617159 OMIM:100800 OMIM:187600 OMIM:187601 OMIM:272460 OMIM:620083 OMIM:616007 OMIM:258480 OMIM:618019 ORPHA:457395

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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