Human Phenotype Ontology

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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:
Short digit (HP:0011927)

Parent Node:
Brachydactyly (HP:0001156)

..Starting node
..Type E brachydactyly (HP:0005863)

Term ID:

5863

Name:

Type E brachydactyly

Synonym:

Definition:

In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.

Comments:

Reference:

HP:0005863

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brachytelomesophalangy (HP:0005872)

Type A brachydactyly (HP:0009370)

Type B brachydactyly (HP:0005831)

Type C brachydactyly (HP:0009373)

Type D brachydactyly (HP:0005627)

Unilateral brachydactyly (HP:0006008)

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:0005863	HP:0005863	Type E brachydactyly	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent	284
HP:0005863	HP:0005863	Type E brachydactyly	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040281 - Very frequent	25
HP:0005863	HP:0005863	Type E brachydactyly	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0005863	HP:0005863	Type E brachydactyly	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040281 - Very frequent	6

Genes (3) :COL2A1 HOXD13 PTHLH

Diseases (3) :ORPHA:1856 ORPHA:93387 OMIM:113300

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.