Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal scalp morphology (HP:0001965)

Parent Node:
Regional abnormality of skin (HP:0011356)

..Starting node
..Cutis gyrata of scalp (HP:0010541)

Term ID:

10541

Name:

Cutis gyrata of scalp

Synonym:

Cutis verticis gyrata; Furrows in thickened skin on top of scalp; Scalp folds; Scalp furrows; Scalp rugae; Thickened folds on top of scalp; Thickening of the scalp

Definition:

The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.

Comments:

Reference:

HP:0010541

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal dermatoglyphics (HP:0007477)

Abnormal skin morphology of the palm (HP:0040211)

Abnormality of the periungual region (HP:0100803)

Abnormality of the plantar skin of foot (HP:0100872)

Palmoplantar pustulosis (HP:0100847)

Pretibial blistering (HP:0012221)

Pretibial myxedema (HP:0200028)

Prominent digit pad (HP:0011298)

Pterygium (HP:0001059)

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:0010541	HP:0010541	Cutis gyrata of scalp	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0010541	HP:0010541	Cutis gyrata of scalp	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent	55
HP:0010541	HP:0010541	Cutis gyrata of scalp	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0010541	HP:0010541	Cutis gyrata of scalp	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant	.	13
HP:0010541	HP:0010541	Cutis gyrata of scalp	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent	13

Genes (4) :FGFR2 HPGD NDE1 SLCO2A1

Diseases (4) :OMIM:123790 ORPHA:2796 OMIM:605013 OMIM:167100

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

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