Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Neu-Laxova syndrome |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Rough skin (finding) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rough skin of hands (finding) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Keratoderma hereditarium mutilans with ichthyosis syndrome |
Interprets |
False |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Keratoderma hereditarium mutilans with ichthyosis syndrome |
Interprets |
False |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypotrichosis with keratosis pilaris and lentiginosis |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Xeroderma of left eyelid (disorder) |
Interprets |
False |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Xeroderma of right eyelid |
Interprets |
False |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Xeroderma of right upper eyelid |
Interprets |
False |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Xeroderma of left upper eyelid |
Interprets |
False |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Harlequin fetus |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive epidermolytic ichthyosis |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cutis gyrata syndrome of Beare and Stevenson (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Systematized linear porokeratosis |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pityriasis rubra pilaris due to human immunodeficiency virus infection |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Erythrokeratodermia cardiomyopathy syndrome |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic skin disease characterised by generalised skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis. |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Generalized inflammatory peeling skin syndrome |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Generalized non-inflammatory peeling skin syndrome |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ichthyosis hystrix gravior |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile pityriasis rubra pilaris |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired ichthyosis due to paraneoplastic syndrome (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Adult pityriasis rubra pilaris |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Terra firma-forme dermatosis (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) |
Interprets |
True |
Keratinisation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |