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:
Abnormal digit morphology (HP:0011297)

Grandparent Node:
Broad long bones (HP:0005622)

Parent Node:
Broad phalanx (HP:0006009)

..Starting node
..Widened distal phalanges (HP:0006200)

Term ID:

6200

Name:

Widened distal phalanges

Synonym:

Widened outermost bone of limb

Definition:

Comments:

Reference:

HP:0006200

Genes and Diseases:

Child Nodes:

........

Wide tufts of distal phalanges (HP:0006095)

Sister Nodes:

Broad phalanges of the hand (HP:0009768)

Broad phalanx of the toes (HP:0010174)

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:0006200	HP:0006200	Widened distal phalanges	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0006200	HP:0006200	Widened distal phalanges	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0006200	HP:0006200	Widened distal phalanges	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0006200	HP:0006200	Widened distal phalanges	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0006200	HP:0006095	Wide tufts of distal phalanges	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215

Genes (4) :COL11A1 CREBBP EP300 FLNB

Diseases (4) :OMIM:154780 ORPHA:353277 ORPHA:353284 OMIM:108721

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