Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autosomal dominant ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ichthyosis hystrix (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Limb reduction-ichthyosis syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ichthyosis linearis circumflexa |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Erythrokeratodermia variabilis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neu-Laxova syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Annular epidermolytic ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Self-healing collodion baby |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acral self-healing collodion baby |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
MEDNIK syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital ichthyosis with hypotrichosis syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ichthyosis, oral and digital anomalies syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital cataract ichthyosis syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ichthyosis cheek eyebrow syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Syndromic recessive X-linked ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked ichthyosis with steryl-sulphatase deficiency |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Curly hair, acral keratoderma, caries syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterised by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Porokeratosis of Mibelli |
Finding site |
False |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Porokeratosis of Mibelli, linear unilateral type |
Finding site |
False |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Senile ichthyosis |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ichthyosis bullosa of Siemens |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Keratinopathic ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bathing suit ichthyosis |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Keratoderma hereditarium mutilans with ichthyosis syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ichthyosis (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, syndromic congenital ichthyosis characterised by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Follicular ichthyosis |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Keratitis ichthyosis and deafness syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Harlequin fetus |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive epidermolytic ichthyosis |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Generalized peeling skin syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hereditary skin peeling syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acral peeling skin syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bathing skin of full body of subject in bed (procedure) |
Procedure site - Direct (attribute) |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pale complexion (finding) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pale discoloration of entire skin of body (finding) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Generalized inflammatory peeling skin syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Generalized non-inflammatory peeling skin syndrome |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ichthyosis hystrix gravior |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired ichthyosis due to paraneoplastic syndrome (disorder) |
Finding site |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Total skin electron beam therapy (procedure) |
Procedure site - Direct (attribute) |
True |
Entire skin |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |