Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Radionecrosis of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Psoriasis with eczema |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Café-au-lait spots and ring chromosome 11 |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Sweating on left half of body (finding) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Sweating on right half of body (finding) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Segmental neurofibromatosis type 1 (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Waardenburg syndrome type 3 |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Contracture scar of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Acute blistering eruption of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Bowel-associated dermatosis-arthritis syndrome |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Bowel-associated dermatosis-arthritis syndrome |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
syndrome post bypass intestinal |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Wrinkly skin syndrome |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Psoriasis exacerbated by human immunodeficiency virus infection |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cutaneous bends |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Irritant contact dermatitis caused by jewellery |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Allergic contact dermatitis caused by jewelry (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Maculopapular sarcoidosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Platinum asthma (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Systematised linear porokeratosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Congenital pigmented nevus with atypical melanocytic proliferation (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neurocutaneous melanosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Chronic lichenoid pityriasis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Pityriasis lichenoides |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Retiform parapsoriasis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Retiform parapsoriasis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Neurocutaneous syndrome |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
5 |
Von Hippel-Lindau syndrome |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Vascular neurocutaneous syndrome |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Pulmonary tuberous sclerosis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
6 |
Ash leaf spot, tuberous sclerosis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
Hereditary neurocutaneous angiomata (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Port-wine stain in proteus syndrome (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
6 |
Phakomatosis cesioflammea |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Phakomatosis spilorosea |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Phakomatosis caesiomarmorata |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
6 |
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
7 |
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 |
True |
Skin structure |
Inferred relationship |
Some |
4 |
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 |
True |
Skin structure |
Inferred relationship |
Some |
4 |
A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Ulceration of skin due to radiotherapy (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neonatal infection of skin caused by Pseudomonas |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neonatal pyoderma caused by Streptococcus pyogenes |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Congenital extramedullary dermal hematopoiesis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Skin disease that is not unique to the HIV (human immunodeficiency virus) positive population but may have a more severe presentation that is refractory to treatment as a result of coexisting HIV infection. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Pityriasis rubra pilaris due to human immunodeficiency virus infection (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Neonatal scald injury |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Post-inflammatory scar of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Post-herpetic scar of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Improvement in level of integrity of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Hypomyopathic juvenile dermatomyositis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Juvenile dermatomyositis overlap syndrome (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Behcet disease of skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Annular sarcoidosis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Dermatomyositis overlap syndrome (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Metastatic adenocarcinoma to skin (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Cutaneous complication of rheumatoid disease (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Psoriatic onycholysis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Psoriatic onycholysis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
7 |
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 |
2 |
Bullous diffuse cutaneous mastocytosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Bullous diffuse cutaneous mastocytosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Disorder of skin due to human immunodeficiency virus infection (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Basal cell carcinoma - primary (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Metastatic basal cell carcinoma (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Mycosis fungoides of facial lymph node (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Mycosis fungoides of inguinal lymph node |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Mycosis fungoides of lower limb lymph node |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Histologic type of malignant melanoma of skin (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Histologic type of neoplasm of skin |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Hydroa vacciniforme-like cutaneous T-cell lymphoma |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Skin structure around stoma (body structure) |
Is a |
True |
Skin structure |
Inferred relationship |
Some |
|
Pseudoxanthomatous nodular cutaneous mastocytosis |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Skin necrosis due to heparin induced thrombocytopenia |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Acquired porphyria cutanea tarda |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Allergic contact dermatitis caused by metal and/or metal compound (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Acrodynia due to mercury poisoning |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Deep partial thickness burn |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Nail pterygium in lichen planus (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
6 |
Perinatal cyanotic attacks |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
4 |
Autosomal recessive epidermolysis bullosa simplex |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neutrophilic eccrine hidradenitis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Neutrophilic eccrine hidradenitis due to cytotoxic therapy (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Distance of melanoma in situ of skin from closest peripheral margin in excised skin specimen |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Distance of in situ melanoma from closest lateral surgical margin in excised specimen of skin |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Distance of malignant melanoma of skin from closest deep margin in excised skin specimen (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Breslow depth staging for melanoma of skin (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
6 |
Clark's melanoma level of invasion of excised malignant melanoma of skin |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Skin structure |
Inferred relationship |
Some |
8 |
Stippling of skin (finding) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neonatal toxic erythema (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Neonatal toxic erythema (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Numbness of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Numbness and tingling sensation of skin |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Leukemic infiltration of skin in monocytic leukemia (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Leukemic infiltration of skin in hairy-cell leukemia (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |