Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Poikilodermatomyositis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A very rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A rare life-threatening cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Dermatomyositis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia as well as skeletal, ocular and neurological abnormalities have also been reported. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Acute papular onchodermatitis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cysticercosis of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Echinococcosis of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Dermatosis caused by tapeworm |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Disseminated phthiriasis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Infective dermatitis co-occurrent and due to human T-cell lymphotropic virus 1 infection |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Sparganosis of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Pityriasis simplex capitis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cercarial dermatitis of freshwater avian type |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Erythema multiforme of pregnancy |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Yabapox |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cutaneous fluke infection |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Poikilorchiasis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cutaneous habronemiasis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cutaneous schistosomiasis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Solar erythema (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Scalpel wound of fetal skin due to and during delivery procedure (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Acute phototoxic reaction (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Actinic prurigo |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Photoonycholysis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Solar pruritus (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Photoaggravation of disorder (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Hydroa vacciniforme |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Ultraviolet-induced change in normal skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Solar degeneration |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Photoaggravated rosacea (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Photoaggravated psoriasis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Suntan |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Solar comedone |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Pigmentation of skin caused by artificial ultraviolet light (finding) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
PUVA phototherapy burn |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Cutis rhomboidalis nuchae |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Sun-induced wrinkles (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Ultraviolet sensitive syndrome (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Acute effect of ultraviolet radiation on normal skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Chronic effect of ultraviolet radiation on normal skin (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Inflammatorisk hyperkeratotisk dermatose, kronisk |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Inflammatorisk hyperkeratotisk dermatose, isomorf |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Inflammatorisk hyperkeratotisk dermatose, intertriginøs |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Inflammatorisk hyperkeratotisk dermatose, ringformet |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
inflammatorisk hyperkeratotisk rupiakeratose |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Inflammatorisk hyperkeratotisk dermatose, generaliseret eksfoliativ |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Schwannomatosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Pediculosis corporis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Protozoal infestation of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Eczema of ear lobe |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Friction alopecia |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Callus of heel (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Callosity on toe |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Irritant contact dermatitis caused by friction (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Callosity between toes |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Callosity under metatarsal head |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Apical callus |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Juvenile plantar dermatosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Prayer nodule |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Pressure urticaria (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Delayed pressure urticaria (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Jogger's toe |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Wig friction |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Fiddler's neck |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Injury to skin caused by trauma |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Black palm (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Vesicular eczema of foot |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Eczema of face (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Painful pigmented pressure papules (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Jogger's nipple |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Eczema of lower leg (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Tennis toe |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Fibrous corn (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Turf toe |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Eczema of scalp (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Discoid eczema of hands and feet |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Amputation-related dermatosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Painful piezogenic pedal papules |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Pressure-induced dermatosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Plaster of Paris injury to skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Eczema of male genitalia |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Constitutional eczema of foot (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Excoriation of anal skin |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Foot callus |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Lichen simplex of male genitalia (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Familiær aktinisk prurigo |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Familial actinic prurigo of lip (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Sensation of being warm (finding) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |