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 dermatoglyphics (HP:0007477)

Grandparent Node:
Abnormal skin morphology of the palm (HP:0040211)

Parent Node:
Abnormal palmar dermatoglyphics (HP:0001018)

..Starting node
..High axial triradius (HP:0001042)

Term ID:

1042

Name:

High axial triradius

Synonym:

Definition:

Comments:

Reference:

HP:0001042

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal palmar dermal ridges (HP:0007608)

Abnormality of the palmar creases (HP:0010490)

Complex palmar dermatoglyphic pattern (HP:0007602)

Dermatoglyphic ridges abnormal (HP:0005689)

Dermatoglyphic variants (HP:0005882)

Increased dermatoglyphic whorls (HP:0005875)

Prominent interdigital folds (HP:0006189)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001042	HP:0001042	High axial triradius	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	291
HP:0001042	HP:0001042	High axial triradius	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	250

Genes (2) :CREBBP EP300

Diseases (1) :OMIM:180849

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