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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary skin disorder
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Accession:EFO:MONDO:0100118 term browser browse the term
Definition:An instance of skin disease that is caused by a modification of the individual's genome.
Synonyms:exact_synonym: genetic skin disease;   genetic skin diseases;   genodermatosis;   http://identifiers.org/mesh/D012873;   http://identifiers.org/snomedct/239001006
 alt_id: MONDO:0100118
 xref: MESH:D012873;   SCTID:239001006


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary skin disorder 0
              Becker nevus syndrome + 0
              CHILD syndrome 0
              CLOVES syndrome 0
              Cowden disease + 0
              DK1-congenital disorder of glycosylation 0
              Darier disease 0
              H syndrome 0
              Hailey-Hailey disease 0
              Legius syndrome 0
              MEDNIK syndrome 0
              Maffucci syndrome 0
              PENS syndrome 0
              Pilomatrixoma 0
              Sneddon syndrome 0
              Subcutaneous Panniculitis-Like T-Cell Lymphoma 0
              Tietz syndrome 0
              X-linked chondrodysplasia punctata 2 0
              X-linked reticulate pigmentary disorder 0
              absence of fingerprints-congenital milia syndrome 0
              acne + 0
              acrogeria 0
              acrokeratosis verruciformis 0
              albinism-hearing loss syndrome 0
              alopecia, isolated + 0
              aplasia cutis congenita + 0
              autosomal dominant vibratory urticaria 0
              autosomal recessive cutis laxa type 2A + 0
              blue rubber bleb nevus 0
              body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 0
              chorea-acanthocytosis 0
              chronic mucocutaneous candidiasis + 0
              combined immunodeficiency with skin granulomas 0
              cutaneous mastocytosis + 0
              dermatitis herpetiformis, familial 0
              dermatosis papulosa nigra 0
              dyschromatosis universalis hereditaria + 0
              ectodermal dysplasia syndrome + 0
              encephalocraniocutaneous lipomatosis 0
              epidermodysplasia verruciformis + 0
              familial acanthosis nigricans 0
              familial acne inversa + 0
              familial chilblain lupus + 0
              familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0
              familial keratoacanthoma 0
              familial multiple fibrofolliculoma 0
              familial multiple nevi flammei 0
              familial pityriasis rubra pilaris 0
              familial primary localized cutaneous amyloidosis + 0
              generalized basaloid follicular hamartoma syndrome 0
              hereditary angioedema + 0
              hereditary lipodystrophy + 0
              hereditary mucoepithelial dysplasia 0
              hereditary mucosal leukokeratosis + 0
              hereditary palmoplantar keratoderma + 0
              hereditary papulotranslucent acrokeratoderma 0
              hereditary photodermatosis + 0
              hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0
              hyperkeratosis-hyperpigmentation syndrome 0
              hyperpigmentation with or without hypopigmentation, familial progressive + 0
              inflammatory poikiloderma with hair abnormalities and acral keratoses 0
              inherited epidermolysis bullosa + 0
              inherited ichthyosis + 0
              isolated anhidrosis with normal sweat glands 0
              isolated congenital adermatoglyphia 0
              isolated hyperchlorhidrosis 0
              juvenile hyaline fibromatosis 0
              keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 0
              keratosis pilaris atrophicans + 0
              lamellar ichthyosis + 0
              large congenital melanocytic nevus 0
              lichen planus, familial 0
              lichen sclerosus et atrophicus + 0
              linear nevus sebaceous syndrome 0
              linear skin defects with multiple congenital anomalies 0
              lipoid proteinosis 0
              monilethrix 0
              multiple benign circumferential skin creases on limbs 1 0
              neonatal inflammatory skin and bowel disease + 0
              neurocutaneous melanocytosis 0
              nevus comedonicus syndrome 0
              nevus, epidermal + 0
              oculocutaneous albinism + 0
              osteopathia striata-pigmentary dermopathy-white forelock syndrome 0
              phakomatosis pigmentokeratotica 0
              piebaldism 0
              poikiloderma with neutropenia 0
              porokeratosis + 0
              progressive osseous heteroplasia 0
              psoriasis + 0
              reticulate pigment disorder + 0
              scalp defects-postaxial polydactyly syndrome 0
              schwannomatosis 0
              sebocystomatosis 0
              seborrhea-like dermatitis with psoriasiform elements 0
              seborrheic keratosis + 0
              segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0
              severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0
              spinocerebellar ataxia type 34 0
              stiff skin syndrome 0
              sweet syndrome 0
              syndromic oculocutaneous albinism + 0
              vasculitis, lymphocytic, nodular 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            skin disease 0
              hereditary skin disorder 0
                Becker nevus syndrome + 0
                CHILD syndrome 0
                CLOVES syndrome 0
                Cowden disease + 0
                DK1-congenital disorder of glycosylation 0
                Darier disease 0
                H syndrome 0
                Hailey-Hailey disease 0
                Legius syndrome 0
                MEDNIK syndrome 0
                Maffucci syndrome 0
                PENS syndrome 0
                Pilomatrixoma 0
                Sneddon syndrome 0
                Subcutaneous Panniculitis-Like T-Cell Lymphoma 0
                Tietz syndrome 0
                X-linked chondrodysplasia punctata 2 0
                X-linked reticulate pigmentary disorder 0
                absence of fingerprints-congenital milia syndrome 0
                acne + 0
                acrogeria 0
                acrokeratosis verruciformis 0
                albinism-hearing loss syndrome 0
                alopecia, isolated + 0
                aplasia cutis congenita + 0
                autosomal dominant vibratory urticaria 0
                autosomal recessive cutis laxa type 2A + 0
                blue rubber bleb nevus 0
                body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 0
                chorea-acanthocytosis 0
                chronic mucocutaneous candidiasis + 0
                combined immunodeficiency with skin granulomas 0
                cutaneous mastocytosis + 0
                dermatitis herpetiformis, familial 0
                dermatosis papulosa nigra 0
                dyschromatosis universalis hereditaria + 0
                ectodermal dysplasia syndrome + 0
                encephalocraniocutaneous lipomatosis 0
                epidermodysplasia verruciformis + 0
                familial acanthosis nigricans 0
                familial acne inversa + 0
                familial chilblain lupus + 0
                familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0
                familial keratoacanthoma 0
                familial multiple fibrofolliculoma 0
                familial multiple nevi flammei 0
                familial pityriasis rubra pilaris 0
                familial primary localized cutaneous amyloidosis + 0
                generalized basaloid follicular hamartoma syndrome 0
                hereditary angioedema + 0
                hereditary lipodystrophy + 0
                hereditary mucoepithelial dysplasia 0
                hereditary mucosal leukokeratosis + 0
                hereditary palmoplantar keratoderma + 0
                hereditary papulotranslucent acrokeratoderma 0
                hereditary photodermatosis + 0
                hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0
                hyperkeratosis-hyperpigmentation syndrome 0
                hyperpigmentation with or without hypopigmentation, familial progressive + 0
                inflammatory poikiloderma with hair abnormalities and acral keratoses 0
                inherited epidermolysis bullosa + 0
                inherited ichthyosis + 0
                isolated anhidrosis with normal sweat glands 0
                isolated congenital adermatoglyphia 0
                isolated hyperchlorhidrosis 0
                juvenile hyaline fibromatosis 0
                keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 0
                keratosis pilaris atrophicans + 0
                lamellar ichthyosis + 0
                large congenital melanocytic nevus 0
                lichen planus, familial 0
                lichen sclerosus et atrophicus + 0
                linear nevus sebaceous syndrome 0
                linear skin defects with multiple congenital anomalies 0
                lipoid proteinosis 0
                monilethrix 0
                multiple benign circumferential skin creases on limbs 1 0
                neonatal inflammatory skin and bowel disease + 0
                neurocutaneous melanocytosis 0
                nevus comedonicus syndrome 0
                nevus, epidermal + 0
                oculocutaneous albinism + 0
                osteopathia striata-pigmentary dermopathy-white forelock syndrome 0
                phakomatosis pigmentokeratotica 0
                piebaldism 0
                poikiloderma with neutropenia 0
                porokeratosis + 0
                progressive osseous heteroplasia 0
                psoriasis + 0
                reticulate pigment disorder + 0
                scalp defects-postaxial polydactyly syndrome 0
                schwannomatosis 0
                sebocystomatosis 0
                seborrhea-like dermatitis with psoriasiform elements 0
                seborrheic keratosis + 0
                segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0
                severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0
                spinocerebellar ataxia type 34 0
                stiff skin syndrome 0
                sweet syndrome 0
                syndromic oculocutaneous albinism + 0
                vasculitis, lymphocytic, nodular 0
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