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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the integument (HP:0001574)

..Starting node
..Abnormality of the skin (HP:0000951)

Term ID:	951
Name:	Abnormality of the skin
Synonym:	Abnormality of the skin; Dermatopathy; Dermopathy; Skin abnormality
Definition:	An abnormality of the skin.
Comments:
Reference:	HP:0000951
Genes and Diseases:	There are 713 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Neoplasm of the skin (HP:0008069) ................... HP:0001031 Subcutaneous lipoma ................... HP:0001067 Neurofibromas ................... HP:0002671 Basal cell carcinoma ................... HP:0002860 Squamous cell carcinoma ................... HP:0006755 Cutaneous leiomyosarcoma ................... HP:0006769 Myxoid subcutaneous tumors ................... HP:0006773 Cutaneous angiolipomas ................... HP:0007437 Multiple cutaneous leiomyomas ................... HP:0007541 Frontal cutaneous lipoma ................... HP:0007606 Multiple cutaneous malignancies ................... HP:0007620 Cutaneous leiomyoma ................... HP:0009593 Peripheral Schwannoma ................... HP:0009720 Adenoma sebaceum ................... HP:0012035 Steatocystoma multiplex ................... HP:0012056 Cutaneous melanoma ................... HP:0012740 Papilloma ................... HP:0012842 Skin appendage neoplasm ................... HP:0025127 Actinic keratosis ................... HP:0025432 Acanthoma ................... HP:0030428 Cutaneous myxoma ................... HP:0030436 Fibrofolliculoma ................... HP:0030447 Merkel cell skin cancer ................... HP:0031018 Eccrine syringofibroadenoma ................... HP:0031287 Seborrheic keratosis ................... HP:0031525 Keratoacanthoma ................... HP:0031549 Lymphocytoma cutis ................... HP:0100726 Kaposi's sarcoma ................... HP:0200151 Cutaneous mastocytosis
........Abnormality of skin morphology (HP:0011121) ................... HP:0000958 Dry skin ................... HP:0000980 Pallor ................... HP:0001000 Abnormality of skin pigmentation ................... HP:0001029 Poikiloderma ................... HP:0001072 Thickened skin ................... HP:0008066 Abnormal blistering of the skin ................... HP:0010647 Abnormal elasticity of skin ................... HP:0010648 Dermal translucency ................... HP:0011124 Abnormality of epidermal morphology ................... HP:0011354 Generalized abnormality of skin ................... HP:0011355 Localized skin lesion ................... HP:0011356 Regional abnormality of skin ................... HP:0025082 Abnormal cutaneous elastic fiber morphology ................... HP:0025083 Elevated dermal desmosine content ................... HP:0030053 Stiff skin ................... HP:0030764 Ochronosis ................... HP:0031512 Abnormal cutaneous collagen fibril morphology ................... HP:0031538 Abnormal dermoepidermal junction morphology ................... HP:0100725 Lichenification
........Abnormality of skin physiology (HP:0011122) ................... HP:0000989 Pruritus ................... HP:0011123 Inflammatory abnormality of the skin ................... HP:0025531 Harlequin phenomenon ................... HP:0025532 Positive pathergy test ................... HP:0030331 Impaired stimulus-induced skin wrinkling
Sister Nodes:
..Abnormal platysma muscle morphology (HP:3000013)
..Abnormality of skin adnexa morphology (HP:0011138)
..Abnormality of skin adnexa physiology (HP:0025276)
Genes (0) : Diseases (0) :
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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