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

Human Phenotype Ontology

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

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Parent Node:
Abnormality of the skin (HP:0000951)

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..Starting node
..Abnormality of skin morphology (HP:0011121)

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Term ID:	11121
Name:	Abnormality of skin morphology
Synonym:	Abnormal skin morphology; Abnormal skin structure
Definition:	Any morphological abnormality of the skin.
Comments:
Reference:	HP:0011121
Genes and Diseases:	There are 560 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Dry skin (HP:0000958)
........Pallor (HP:0000980) ................... HP:0001017 Anemic pallor
........Abnormality of skin pigmentation (HP:0001000) ................... HP:0000953 Hyperpigmentation of the skin ................... HP:0000995 Melanocytic nevus ................... HP:0001010 Hypopigmentation of the skin ................... HP:0001045 Vitiligo ................... HP:0001070 Mottled pigmentation ................... HP:0001106 Periorbital hyperpigmentation ................... HP:0001480 Freckling ................... HP:0005587 Profuse pigmented skin lesions ................... HP:0007427 Reticulated skin pigmentation ................... HP:0007483 Depigmentation/hyperpigmentation of skin ................... HP:0007587 Numerous pigmented freckles ................... HP:0007610 Blotching pigmentation of the skin ................... HP:0007617 Fine, reticulate skin pigmentation ................... HP:0007623 Pigmentation anomalies of sun-exposed skin ................... HP:0010802 Perioral hyperpigmentation ................... HP:0011125 Abnormality of dermal melanosomes ................... HP:0200015 Symmetric great toe depigmentation
........Poikiloderma (HP:0001029)
........Thickened skin (HP:0001072) ................... HP:0011368 Epidermal thickening ................... HP:0011838 Sclerodactyly ................... HP:0012344 Morphea ................... HP:0100324 Scleroderma
........Abnormal blistering of the skin (HP:0008066) ................... HP:0003341 Junctional split ................... HP:0031045 Acral blistering ................... HP:0031464 Genital blistering ................... HP:0200097 Oral mucosal blisters
........Abnormal elasticity of skin (HP:0010647) ................... HP:0000977 Soft skin ................... HP:0008067 Abnormally lax or hyperextensible skin ................... HP:0100679 Lack of skin elasticity
........Dermal translucency (HP:0010648)
........Abnormality of epidermal morphology (HP:0011124) ................... HP:0025092 Epidermal acanthosis ................... HP:0025115 Civatte bodies ................... HP:0025117 Rete ridge flattening ................... HP:0040189 Scaling skin ................... HP:0100792 Acantholysis
........Generalized abnormality of skin (HP:0011354) ................... HP:0000968 Ectodermal dysplasia ................... HP:0000992 Cutaneous photosensitivity ................... HP:0001001 Abnormality of subcutaneous fat tissue ................... HP:0001005 Dermatological manifestations of systemic disorders ................... HP:0001030 Fragile skin ................... HP:0001058 Poor wound healing ................... HP:0007482 Generalized papillary lesions ................... HP:0007495 Prematurely aged appearance ................... HP:0007549 Desquamation of skin soon after birth ................... HP:0007618 Subcutaneous calcification ................... HP:0011276 Vascular skin abnormality ................... HP:0031284 Flushing
........Localized skin lesion (HP:0011355) ................... HP:0000957 Cafe-au-lait spot ................... HP:0000987 Atypical scarring of skin ................... HP:0000991 Xanthomatosis ................... HP:0000993 Molluscoid pseudotumors ................... HP:0001053 Hypopigmented skin patches ................... HP:0001056 Milia ................... HP:0003764 Nevus ................... HP:0008065 Aplasia/Hypoplasia of the skin ................... HP:0010609 Skin tags ................... HP:0010781 Skin dimples ................... HP:0012733 Macule ................... HP:0025104 Capillary malformation ................... HP:0025245 Cutaneous cyst ................... HP:0025249 Comedo ................... HP:0025527 Serpiginous cutaneous lesion ................... HP:0025528 Annular cutaneous lesion ................... HP:0031057 Skin fissure ................... HP:0031285 Abnormal perifollicular morphology ................... HP:0031452 Lichenoid skin lesion ................... HP:0100276 Skin pit ................... HP:0200034 Papule ................... HP:0200035 Skin plaque ................... HP:0200036 Skin nodule ................... HP:0200037 Skin vesicle ................... HP:0200041 Skin erosion ................... HP:0200042 Skin ulcer
........Regional abnormality of skin (HP:0011356) ................... HP:0001059 Pterygium ................... HP:0007477 Abnormal dermatoglyphics ................... HP:0010541 Cutis gyrata of scalp ................... HP:0011298 Prominent digit pad ................... HP:0012221 Pretibial blistering ................... HP:0040211 Abnormality of the skin of the palm ................... HP:0100803 Abnormality of the periungual region ................... HP:0100847 Palmoplantar pustulosis ................... HP:0100872 Abnormality of the plantar skin of foot ................... HP:0200028 Pretibial myxedema
........Abnormal cutaneous elastic fiber morphology (HP:0025082) ................... HP:0025164 Increased number of elastic fibers in the dermis ................... HP:0025165 Clumping of elastic fibers in the dermis ................... HP:0025166 Thickened elastic fibers in the dermis ................... HP:0025167 Fragmented elastic fibers in the dermis
........Elevated dermal desmosine content (HP:0025083)
........Stiff skin (HP:0030053)
........Ochronosis (HP:0030764)
........Abnormal cutaneous collagen fibril morphology (HP:0031512) ................... HP:0031513 Luse bodies ................... HP:0031519 Cauliflower deformity of dermal collagen fibrils
........Abnormal dermoepidermal junction morphology (HP:0031538) ................... HP:0031539 Linear IgA deposits along the epidermal basement membrane zone ................... HP:0031540 Linear IgG deposits along the epidermal basement membrane zone ................... HP:0031541 Linear C3 deposits along the epidermal basement membrane zone
........Lichenification (HP:0100725) ................... HP:0007453 Flexural lichenification
Sister Nodes:
..Abnormality of skin physiology (HP:0011122)
..Neoplasm of the skin (HP:0008069)
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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