Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Lelis syndrome |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Haim Munk syndrome |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diffuse palmoplantar keratoderma and acrocyanosis syndrome |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Psoriasis of anogenital region (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
MEDNIK syndrome |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Palmoplantar keratoderma with deafness syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Trichodysplasia spinulosa caused by Polyomavirus (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Palmoplantar keratoderma with clinodactyly syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary skin peeling syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Arthrogryposis hyperkeratosis syndrome lethal form |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Van den Bosch syndrome (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inverted follicular keratosis (disorder) |
Has definitional manifestation |
False |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of keratinisation |
Is a |
True |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Rough skin (finding) |
Is a |
True |
Abnormal keratinization |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|