All terms in HP

Label Id Description
Retinal microaneurysm HP_0032416 [A localized dilation or outpouching of microvasculature formed due to disruption of the vessel wall of a retinal capillary blood vessel. The lesions present as small red dots with distinct margins and are not larger than a blood vessel width at the disk margin.]
astringent CHEBI_74783 [A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions.]
Parasagittal parieto-occipital polymicrogyria HP_0032415 [Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.]
Hydroxylysinuria HP_0032414 [The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.]
Congenital nonbullous ichthyosiform erythroderma HP_0007479 [The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.]
Congenital ichthyosiform erythroderma HP_0007431 [An ichthyosiform abnormality of the skin with congenital onset.]
Diffuse subcortical band heterotopia HP_0032413 [Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.]
Anhidrotic ectodermal dysplasia HP_0007476
Congenital bullous ichthyosiform erythroderma HP_0007475 [An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.]
Crusting erythematous dermatitis HP_0007473
Axillary and groin hyperpigmentation and hypopigmentation HP_0007471
Hyperpigmented nevi HP_0007481
Decreased sweating due to autonomic dysfunction HP_0007480
amino sulfonic acid CHEBI_37793 [An organosulfonic acid containing one or more amino groups.]
metalloprotein CHEBI_35134
Anterior predominant subcortical band heterotopia HP_0032412 [Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.]
Posterior predominant subcortical band heterotopia HP_0032411 [Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.]
iron protein CHEBI_35136
Bilateral generalized polymicrogyria HP_0032410 [Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.]
obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs HP_0007409