{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4140&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4100&ordering=identifier","results":[{"identifier":"Microphthalmia, syndromic, 9.","acronym":"MCOPS9.","accession":"DI-00767","synonyms":"Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm.; Anophthalmia/microphthalmia and pulmonary hypoplasia.; Matthew-Wood syndrome.; PDAC.; PMD.; Pulmonary agenesis, microphthalmia, and diaphragmatic defect.; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect.; Spear syndrome.; ","cross_references":"MeSH; D008850.","definition":"A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Microphthalmia with cataracts and iris abnormalities.","acronym":"MCOPCTI.","accession":"DI-00768","synonyms":null,"cross_references":"MeSH; D008850.","definition":"A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.","acronym":"MSPKA.","accession":"DI-02815","synonyms":null,"cross_references":"MeSH; D007905.","definition":"A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation. ","keywords":null},{"identifier":"Microtia, hearing impairment, and cleft palate.","acronym":"MHICP.","accession":"DI-01978","synonyms":null,"cross_references":"MeSH; D000013.","definition":"A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. ","keywords":null},{"identifier":"Microtia with or without hearing impairment.","acronym":"MCRT.","accession":"DI-03965","synonyms":null,"cross_references":"MeSH; D000013.","definition":"Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. ","keywords":null},{"identifier":"Microvascular complications of diabetes 1.","acronym":"MVCD1.","accession":"DI-02754","synonyms":"Diabetic end-stage renal disease.; Diabetic nephropathy.; Diabetic neuropathy.; Non-proliferative diabetic retinopathy.; Proliferative diabetic retinopathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 2.","acronym":"MVCD2.","accession":"DI-02755","synonyms":"Diabetic end-stage renal disease.; Diabetic nephropathy.; Proliferative diabetic retinopathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 3.","acronym":"MVCD3.","accession":"DI-02756","synonyms":"Diabetic end-stage renal disease.; Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 4.","acronym":"MVCD4.","accession":"DI-02757","synonyms":"Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 5.","acronym":"MVCD5.","accession":"DI-02758","synonyms":"Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 6.","acronym":"MVCD6.","accession":"DI-02759","synonyms":"Diabetic nephropathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Microvascular complications of diabetes 7.","acronym":"MVCD7.","accession":"DI-02760","synonyms":"Diabetic nephropathy.; Diabetic non-proliferative retinopathy.; Diabetic proliferative retinopathy.; ","cross_references":"MeSH; D048909.","definition":"Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. ","keywords":null},{"identifier":"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.","acronym":"MFHIEN.","accession":"DI-04939","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay. ","keywords":"KW-0209:Deafness.; KW-0250:Elliptocytosis.; "},{"identifier":"Migraine, familial hemiplegic, 1.","acronym":"FHM1.","accession":"DI-01570","synonyms":"FHM.; MHP1.; Migraine familial hemiplegic with progressive cerebellar ataxia.; ","cross_references":"MeSH; D020325.","definition":"A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ","keywords":null},{"identifier":"Migraine, familial hemiplegic, 2.","acronym":"FHM2.","accession":"DI-01571","synonyms":"Familiar basilar migraine.; MHP2.; ","cross_references":"MeSH; D020325.","definition":"A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ","keywords":null},{"identifier":"Migraine, familial hemiplegic, 3.","acronym":"FHM3.","accession":"DI-01572","synonyms":"MHP3.; ","cross_references":"MeSH; D020325.","definition":"A subtype of migraine associated with transient blindness in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ","keywords":null},{"identifier":"Migraine with or without aura 13.","acronym":"MGR13.","accession":"DI-02934","synonyms":"Migraine with aura 13.; ","cross_references":"MeSH; D020326.","definition":"A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ","keywords":null},{"identifier":"Miller-Dieker lissencephaly syndrome.","acronym":"MDLS.","accession":"DI-00769","synonyms":null,"cross_references":"MeSH; D054221.","definition":"A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. ","keywords":"KW-0451:Lissencephaly.; "},{"identifier":"MIRAGE syndrome.","acronym":"MIRAGE.","accession":"DI-04777","synonyms":"Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.; ","cross_references":"MeSH; D006130.","definition":"A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. ","keywords":null},{"identifier":"Mirror movements 1.","acronym":"MRMV1.","accession":"DI-02833","synonyms":"Bimanual synergia.; Congenital mirror movements.; Mirror movements 1 and/or agenesis of the corpus callosum.; ","cross_references":"MeSH; D020820.","definition":"A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum. ","keywords":null}]}