| D007057 |
Ichthyosis |
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. |
Xeroderma,Ichthyoses,Xerodermas |
|
| D007640 |
Keratoconus |
A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus. |
Keratoglobus,Pellucid Marginal Corneal Degeneration,Pellucid Marginal Degeneration,Degeneration, Pellucid Marginal,Marginal Degeneration, Pellucid,Pellucid Marginal Degenerations |
|
| D008548 |
Melanosis |
Disorders of increased melanin pigmentation that develop without preceding inflammatory disease. |
Chloasma,Freckles,Melanism,Melasma,Chloasmas,Freckle,Melanoses,Melasmas |
|
| D009083 |
Mucopolysaccharidoses |
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
Mucopolysaccharidosis |
|
| D009506 |
Nevus |
A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin. |
Mole, Skin,Moles, Skin,Skin Mole,Nevi,Skin Moles |
|
| D003315 |
Cornea |
The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) |
Corneas |
|
| D003317 |
Corneal Dystrophies, Hereditary |
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. |
Corneal Dystrophies,Granular Dystrophy, Corneal,Groenouw's Dystrophies,Macular Dystrophy, Corneal,Stromal Dystrophies, Corneal,Corneal Dystrophy,Corneal Dystrophy, Hereditary,Corneal Granular Dystrophies,Corneal Granular Dystrophy,Corneal Macular Dystrophies,Corneal Macular Dystrophy,Corneal Stromal Dystrophies,Corneal Stromal Dystrophy,Dystrophy, Corneal,Dystrophy, Corneal Granular,Dystrophy, Corneal Macular,Dystrophy, Corneal Stromal,Dystrophy, Hereditary Corneal,Groenouw Dystrophies,Groenouws Dystrophies,Hereditary Corneal Dystrophies,Hereditary Corneal Dystrophy,Stromal Dystrophy, Corneal |
|
| D003554 |
Cystinosis |
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. |
Cystine Diathesis,Cystine Disease,Cystine Storage Disease,Cystinoses,Cystinosin, Defect of,Cystinosis, Nephropathic,Lysosomal Cystine Transport Protein, Defect Of,Nephropathic Cystinosis,Cystine Diatheses,Cystine Diseases,Cystine Storage Diseases,Cystinoses, Nephropathic,Defect of Cystinosin,Diatheses, Cystine,Diathesis, Cystine,Nephropathic Cystinoses,Storage Disease, Cystine,Storage Diseases, Cystine |
|
| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
|
| D004402 |
Dysautonomia, Familial |
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) |
HSAN Type III,Hereditary-Sensory and Autonomic Neuropathy Type III,Neuropathy, Hereditary and Autonomic, Type III,Riley-Day Syndrome,Dominant Hereditary Sensory Neuropathy, Type III,Familial Dysautonomia,HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III,HSAN 3,HSAN III,HSAN3,HSN-III,Hereditary Sensory Neuropathy Type 3,Hereditary Sensory Neuropathy, Dominant, Type 3,Hereditary Sensory Neuropathy, Dominant, Type III,Hereditary Sensory Neuropathy, Type 3, Dominant,Hereditary Sensory and Autonomic Neuropathy 3,Neuropathy, Hereditary Sensory And Autonomic, Type III,Type 3 Hereditary Sensory Neuropathy, Dominant,Type III Hereditary Sensory Neuropathy, Dominant,Hereditary Sensory and Autonomic Neuropathy Type III,Riley Day Syndrome |
|
-transparent.png){kind=logo}
