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 rib morphology (HP:0000772)

Grandparent Node:
Supernumerary bones of the axial skeleton (HP:0009144)

Parent Node:
Supernumerary ribs (HP:0005815)

..Starting node
..Cervical ribs (HP:0000891)

Term ID:

891

Name:

Cervical ribs

Synonym:

Definition:

Comments:

Reference:

HP:0000891

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000891	HP:0000891	Cervical ribs	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000891	HP:0000891	Cervical ribs	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000891	HP:0000891	Cervical ribs	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000891	HP:0000891	Cervical ribs	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000891	HP:0000891	Cervical ribs	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0000891	HP:0000891	Cervical ribs	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000891	HP:0000891	Cervical ribs	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000891	HP:0000891	Cervical ribs	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000891	HP:0000891	Cervical ribs	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000891	HP:0000891	Cervical ribs	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000891	HP:0000891	Cervical ribs	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0000891	HP:0000891	Cervical ribs	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000891	HP:0000891	Cervical ribs	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000891	HP:0000891	Cervical ribs	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000891	HP:0000891	Cervical ribs	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12

Genes (11) :AFF3 ANKRD11 GATA6 GPC3 GPC4 IFT57 PUF60 RBM8A RUNX2 SF3B2 SON

Diseases (14) :OMIM:619297 OMIM:148050 ORPHA:2332 OMIM:600001 ORPHA:2255 OMIM:312870 OMIM:617927 ORPHA:508488 OMIM:274000 ORPHA:3320 OMIM:119600 OMIM:164210 ORPHA:500150 OMIM:617140

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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