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:
Absent phalangeal crease (HP:0006109)

Parent Node:
Absent distal interphalangeal creases (HP:0001032)

..Starting node
..Absent fourth finger distal interphalangeal crease (HP:0005780)

Term ID:

5780

Name:

Absent fourth finger distal interphalangeal crease

Synonym:

No fourth finger distal interphalangeal crease

Definition:

Absence of the distal interphalangeal flexion creases of the fourth finger.

Comments:

Reference:

HP:0005780

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:0005780	HP:0005780	Absent fourth finger distal interphalangeal crease	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.	68
HP:0005780	HP:0005780	Absent fourth finger distal interphalangeal crease	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1

Genes (2) :RBBP8 TLK2

Diseases (2) :OMIM:251255 OMIM:618050

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