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 the skin (HP:0000951)

Parent Node:
Abnormality of skin morphology (HP:0011121)

..Starting node
..Stiff skin (HP:0030053)

Term ID:

30053

Name:

Stiff skin

Synonym:

Indurated skin; Stiff skin

Definition:

An induration (hardening) of the skin

Comments:

Reference:

HP:0030053

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal blistering of the skin (HP:0008066)

Abnormal cutaneous collagen fibril morphology (HP:0031512)

Abnormal cutaneous elastic fiber morphology (HP:0025082)

Abnormal dermoepidermal junction morphology (HP:0031538)

Abnormal elasticity of skin (HP:0010647)

Abnormal epidermal morphology (HP:0011124)

Abnormality of skin pigmentation (HP:0001000)

Dermal translucency (HP:0010648)

Dry skin (HP:0000958)

Elevated dermal desmosine content (HP:0025083)

Generalized abnormality of skin (HP:0011354)

Lichenification (HP:0100725)

Localized skin lesion (HP:0011355)

Ochronosis (HP:0030764)

Pallor (HP:0000980)

Poikiloderma (HP:0001029)

Regional abnormality of skin (HP:0011356)

Thickened skin (HP:0001072)

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:0030053	HP:0030053	Stiff skin	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0030053	HP:0030053	Stiff skin	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0030053	HP:0030053	Stiff skin	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040280 - Obligate	645
HP:0030053	HP:0030053	Stiff skin	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0030053	HP:0030053	Stiff skin	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040281 - Very frequent	68
HP:0030053	HP:0030053	Stiff skin	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0030053	HP:0030053	Stiff skin	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040280 - Obligate	83

Genes (7) :ADA2 FBN1 LMNA PSMB8 SLC29A3 SMAD4 ZMPSTE24

Diseases (6) :OMIM:615688 OMIM:184900 ORPHA:1662 OMIM:256040 ORPHA:168569 OMIM:139210

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