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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Skin Abnormalities +     
acrodermatitis +   
Actinic Prurigo  
adermatoglyphia  
Albinism +   
Anetoderma +   
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Autoinflammation with Arthritis and Dyskeratosis  
autosomal recessive congenital ichthyosis +   
Barber-Say syndrome  
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Beare-Stevenson cutis gyrata syndrome  
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
Bloch-Sulzberger syndrome +   
Book Syndrome 
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
C1q Deficiency  
Carney complex +   
cherubism +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cutaneous Bullous Amyloidosis 
Cutaneous Hemangiomatosis with Associated Features 
cutaneous porphyria  
cutis laxa +   
Defect in Hyaluronan Metabolism 
Dermal Ridges, Nelson Syndrome 
Dermoodontodysplasia 
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
epidermolytic hyperkeratosis +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia 
Familial Dyskeratotic Comedones 
Familial Popliteal Pterygium Syndrome 
Familial Reactive Perforating Collagenosis 
fetal encasement syndrome  
geroderma osteodysplasticum  
Hailey-Hailey disease  
Hairy Palms and Soles 
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
Hereditary Benign Intraepithelial Dyskeratosis 
hereditary mucosal leukokeratosis  
Hereditary Sclerosing Poikiloderma +   
Histiocytic Dermatoarthritis 
hyaline fibromatosis syndrome  
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
Hypohidrosis with Abnormal Palmar Dermal Ridges 
ichthyosis +   
ichthyosis vulgaris +   
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Isolated Osteopoikilosis 
Isolated Pterygium Colli 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
lethal restrictive dermopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
MLS syndrome +   
monilethrix +   
Muir-Torre syndrome  
multiple benign circumferential skin creases on limbs +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
multiple pterygium syndrome +   
Multiple Self-healing Palmoplantar Carcinoma  
Oculocerebrocutaneous Syndrome 
Oculotrichodysplasia 
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Patternless Dermal Ridges 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
Port-Wine Stain +   
primary cutaneous amyloidosis +   
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
pseudoxanthoma elasticum +   
Ridges-off-the-end Syndrome 
Rothmund-Thomson syndrome +   
Sclerema Neonatorum 
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
stiff skin syndrome  
Storm Syndrome 
trichothiodystrophy +   
Urban Schosser Spohn Syndrome  
Vascular Hyalinosis 
Vohwinkel Syndrome, Variant Form  
Winter Shortland Temple Syndrome  
X-linked ichthyosis +   
X-linked reticulate pigmentary disorder  
xeroderma pigmentosum +   

Synonyms
Primary IDs: MESH:D019871
Alternate IDs: DOID:0070025 ;   RDO:0001491
Xrefs: GARD:10905 ;   NCI:C111802 ;   OMIM:PS127550 ;   ORDO:1775
Definition Sources: http://en.wikipedia.org/wiki/Dyskeratosis_congenita "DO", http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita "DO", MESH:D019871

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