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:
Aplasia of the fingers (HP:0009380)

Grandparent Node:
Oligodactyly (HP:0012165)

Parent Node:
Hand oligodactyly (HP:0001180)

..Starting node
..Hand monodactyly (HP:0004058)

Term ID:

4058

Name:

Hand monodactyly

Synonym:

Definition:

Comments:

Reference:

HP:0004058

Genes and Diseases:

Child Nodes:

Sister Nodes:

Postaxial oligodactyly (HP:0006210)

Unilateral oligodactyly (HP:0006230)

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:0004058	HP:0004058	Hand monodactyly	0	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex	HP:0040281 - Very frequent	4
HP:0004058	HP:0004058	Hand monodactyly	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	HP:0040283 - Occasional	515

Genes (2) :BHLHA9 CHD7

Diseases (2) :ORPHA:1986 OMIM:214800

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