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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Rare genetic skin disease
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Accession:EFO:Orphanet:68346 term browser browse the term
Synonyms:exact_synonym: Rare genodermatosis
 external_ontology: has_disease_location EFO:UBERON:0000014


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Rare genetic skin disease 0
              Alopecia - epilepsy - pyorrhea - intellectual disability 0
              Alopecia - intellectual disability - hypergonadotropic hypogonadism 0
              Alopecia universalis 0
              Alopecia-contractures-dwarfism-intellectual disability syndrome 0
              Alopecia-intellectual disability syndrome 0
              Amelo-cerebro-hypohidrotic syndrome 0
              Amelo-onycho-hypohidrotic syndrome 0
              Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 0
              Ankyloblepharon - ectodermal defects - cleft lip/palate 0
              Autosomal dominant deafness-onychodystrophy syndrome 0
              Blepharo-cheilo-odontic syndrome 0
              Cataract - hypertrichosis - intellectual disability 0
              Cerebellar ataxia - ectodermal dysplasia 0
              Cervical hypertrichosis - peripheral neuropathy 0
              Choroidal atrophy - alopecia 0
              Conductive deafness - ptosis - skeletal anomalies 0
              Congenital generalized hypertrichosis, Ambras type 0
              Contractures - ectodermal dysplasia - cleft lip/palate 0
              Ectodermal dysplasia - blindness 0
              Ectodermal dysplasia - cutaneous syndactyly syndrome 0
              Ectodermal dysplasia - intellectual disability - central nervous system malformation 0
              Ectodermal dysplasia - sensorineural deafness 0
              Ectodermal dysplasia - syndactyly syndrome 0
              Ellis Van Creveld syndrome 0
              Genetic epidermal disorder + 0
              Genetic immune deficiency with skin involvement + 0
              Genetic photodermatosis + 0
              Genetic pigmentation anomaly of the skin + 0
              Genetic subcutaneous tissue disorder + 0
              Hair defect - photosensitivity - intellectual disability 0
              Hypertrichosis cubiti - short stature 0
              Hypodontia - dysplasia of nails 0
              Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 0
              Hypotrichosis with juvenile macular degeneration 0
              Isolated hair shaft abnormality + 0
              Isolated nail anomaly + 0
              Langer-Giedion syndrome 0
              Leprechaunism 0
              Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair 0
              Metabolic disease with skin involvement + 0
              Odonto-onycho dysplasia - alopecia 0
              Orofaciodigital syndrome type 1 0
              Pili torti - developmental delay - neurological abnormalities 0
              Pili torti - onychodysplasia 0
              Pilodental dysplasia - refractive errors 0
              Scarring alopecia of scalp 0
              Sparse hair - short stature - skin anomalies 0
              Steatocystoma multiplex - natal teeth 0
              Taurodontia - absent teeth - sparse hair 0
              Trichodermodysplasia - dental alterations 0
              Trichodysplasia - amelogenesis imperfecta 0
              Trichodysplasia - xeroderma 0
              Trichomegaly - cataract - hereditary spherocytosis 0
              Trichomegaly - retina pigmentary degeneration - dwarfism 0
              Trichorhinophalangeal syndrome type 1 and 3 0
              Unclassified genetic skin disorder + 0
              Woolly hair - hypotrichosis - everted lower lip - outstanding ears 0
              alopecia areata 0
              androgenetic alopecia + 0
              chemotherapy-induced alopecia 0
              cicatricial alopecia 0
              frontal fibrosing alopecia 0
              x-linked ichthyosis with steryl-sulfatase deficiency 0
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