Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Staphylococcal toxin-mediated reaction of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neonatal dermatosis caused by maternal antibody (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Pemphigus of vulva (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Idiopathic pure sudomotor failure (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Hypohidrosis of unknown etiology (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Basal epidermolysis bullosa simplex (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Spitzoid neoplasm of uncertain malignant potential (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Spitzoid neoplasm of uncertain malignant potential (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Acute erythematous eruption of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
7 |
Familial multiple fibrofolliculoma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
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 |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Cutaneous histoplasmosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Primary cutaneous histoplasmosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Disseminated cutaneous histoplasmosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cutaneous African histoplasmosis |
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 |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
7 |
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
8 |
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Clastothrix |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Clastothrix |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
7 |
Trunk feels cold |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Hypohidrosis co-occurrent and due to disorder of sympathetic nervous system (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
10 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
9 |
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
Junctional epidermolysis bullosa non-Herlitz type (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Junctional epidermolysis bullosa non-Herlitz type (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Generalized rash (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Nonerosive lichen planus of oral mucosa (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
6 |
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Pruritus caused by drug (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Pruritus due to neurological disorder (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Hereditary skin fragility (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Purpura of skin and/or skin-associated mucous membrane co-occurrent and due to coagulation disorder (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Purpura of skin and/or skin-associated mucous membrane co-occurrent and due to coagulation disorder (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Chronic radiodermatitis due to and following radiotherapy caused by ionizing radiation (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
Primary malignant neoplasm of skin due to and following radiotherapy |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Necrosis of skin due to and following injection of filler (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Contact dermatitis caused by protein |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Occupationally-acquired disorder of skin pigmentation (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Lesion of skin due to diabetes mellitus (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Localized eruption of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Acquired anhidrosis co-occurrent and due to primary autonomic disorder (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Allergic contact dermatitis caused by hairdressing product |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Allergic contact blepharoconjunctivitis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Irritant contact dermatitis caused by cosmetic substance |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Irritant contact dermatitis caused by cosmetic substance |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Occupational contact dermatitis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Dystrophic calcification of skin due to inflammatory disease (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Keratinopathic ichthyosis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Genetic disorder of skin pigmentation (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Disorder of skin following procedure (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Acute radiodermatitis due to and following radiotherapy |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
Allergic contact sensitization of skin and skin-associated mucous membrane |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Exacerbation of constitutional dermatitis due to occupation (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Occupational injury of skin caused by corrosive substance (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |