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 skin morphology (HP:0011121)

Parent Node:
Thickened skin (HP:0001072)

..Starting node
..Sclerodactyly (HP:0011838)

Term ID:

11838

Name:

Sclerodactyly

Synonym:

Definition:

Localized thickening and tightness of the skin of the fingers or toes.

Comments:

Reference:

HP:0011838

Genes and Diseases:

Child Nodes:

Sister Nodes:

Epidermal thickening (HP:0011368)

Morphea (HP:0012344)

Scleroderma (HP:0100324)

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:0011838	HP:0011838	Sclerodactyly	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011838	HP:0011838	Sclerodactyly	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0011838	HP:0011838	Sclerodactyly	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0011838	HP:0011838	Sclerodactyly	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0011838	HP:0011838	Sclerodactyly	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent	6

Genes (4) :GJA1 LBR RSPO1 SMARCAD1

Diseases (5) :ORPHA:1010 ORPHA:779 OMIM:613471 OMIM:610644 ORPHA:384

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