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:
Abnormality of finger (HP:0001167)

Parent Node:
Abnormal fingertip morphology (HP:0001211)

..Starting node
..Broad fingertip (HP:0011300)

Term ID:

11300

Name:

Broad fingertip

Synonym:

Broad fingertip; Broad fingertips

Definition:

Increased width of the distal segment of a finger.

Comments:

Reference:

HP:0011300

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clubbing of fingers (HP:0100759)

Prominent fingertip pads (HP:0001212)

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:0011300	HP:0011300	Broad fingertip	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0011300	HP:0011300	Broad fingertip	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0011300	HP:0011300	Broad fingertip	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0011300	HP:0011300	Broad fingertip	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0011300	HP:0011300	Broad fingertip	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0011300	HP:0011300	Broad fingertip	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241

Genes (4) :HPGD RAB3GAP2 SRCAP TCF4

Diseases (6) :ORPHA:217059 OMIM:212720 OMIM:136140 ORPHA:2044 ORPHA:2896 OMIM:610954

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