{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4060&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4020&ordering=-synonyms","results":[{"identifier":"Microphthalmia, syndromic, 15.","acronym":"MCOPS15.","accession":"DI-05725","synonyms":"Microphthalmia and/or coloboma with developmental delay.; ","cross_references":"MeSH; D008850.","definition":"A form of microphthalmia, 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. MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Micropenis.","acronym":"MCRPENS.","accession":"DI-04741","synonyms":"Microphallus.; ","cross_references":"MeSH; D058490.","definition":"A disease trait defined as a stretched penile length of less than 2.5 standard deviations below the mean for age. Traditionally, the term micropenis refers to a penis that is otherwise normally formed. The term microphallus is used when associated hypospadias is present. The mean stretched penile length in a full-term newborn male is 3.5 cm. Measurements of less than 2-2.5 cm in a full-term newborn male meet the definition of micropenis. ","keywords":null},{"identifier":"Omodysplasia 1.","acronym":"OMOD1.","accession":"DI-02618","synonyms":"Micromelic dysplasia congenital with dislocation of radius.; Omodysplasia autosomal recessive.; Omodysplasia generalized form.; ","cross_references":"MeSH; D010009.","definition":"A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Pierson syndrome.","acronym":"PIERS.","accession":"DI-02165","synonyms":"Microcoria-congenital nephrotic syndrome.; ","cross_references":"MeSH; D009404.","definition":"An autosomal recessive disorder characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis, and eye abnormalities with microcoria and hypoplasia of the ciliary and pupillary muscles. Death usually occurs within the first weeks of life. Patients who survive tend to show neurodevelopmental delay and visual loss. ","keywords":null},{"identifier":"Microcephaly 1, primary, autosomal recessive.","acronym":"MCPH1.","accession":"DI-00751","synonyms":"Microcephaly vera.; PCC syndrome.; Premature chromosome condensation syndrome.; True microcephaly.; ","cross_references":"MeSH; D008831.","definition":"A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. ","keywords":"KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Heyn-Sproul-Jackson syndrome.","acronym":"HESJAS.","accession":"DI-05727","synonyms":"Microcephaly, short stature, and impaired intellectual development.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Microcephaly, short stature, and impaired glucose metabolism 1.","acronym":"MSSGM1.","accession":"DI-04234","synonyms":"Microcephaly, short stature, and impaired glucose metabolism.; MSSGM.; ","cross_references":"MeSH; D044882.","definition":"An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes. ","keywords":"KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Diencephalic-mesencephalic junction dysplasia syndrome 1.","acronym":"DMJDS1.","accession":"DI-05123","synonyms":"Microcephaly, seizures, spasticity, and brain calcifications.; Microcephaly with spastic quadriplegia.; MISSBC.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications. ","keywords":"KW-0887:Epilepsy.; KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Microcephaly 5, primary, autosomal recessive.","acronym":"MCPH5.","accession":"DI-00752","synonyms":"Microcephaly primary autosomal recessive 5 with simplified gyral pattern.; ","cross_references":"MeSH; D008831.","definition":"A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ","keywords":"KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Microphthalmia, syndromic, 8.","acronym":"MCOPS8.","accession":"DI-00766","synonyms":"Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism.; MMEP.; MMEP syndrome.; Viljoen-Smart syndrome.; ","cross_references":"MeSH; D008850.","definition":"A very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. 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":"Nijmegen breakage syndrome-like disorder.","acronym":"NBSLD.","accession":"DI-02806","synonyms":"Microcephaly and spontaneous chromosome instability without immunodeficiency.; NBS-like disorder.; RAD50 deficiency.; ","cross_references":"MeSH; D049914.","definition":"A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. ","keywords":null},{"identifier":"Saul-Wilson syndrome.","acronym":"SWILS.","accession":"DI-05354","synonyms":"Microcephalic osteodysplastic dysplasia.; ","cross_references":"MeSH; D010009.","definition":"A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers. Radiographic changes include platyspondyly, irregular end plates of vertebral bodies, and hypoplasia of the odontoid process with cervical instability in the spine, coxa valga, overtubulation, metaphyseal flaring and megaepiphyses in the long bones, while the hands and feet exhibit short phalanges, metacarpals and metatarsals, cone-shaped epiphyses of phalanges, and accessory ossification centers of metacarpals and metatarsals. ","keywords":"KW-0242:Dwarfism.; "},{"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":"Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.","acronym":"MFMFIH-CRYAB.","accession":"DI-03083","synonyms":"MFM fatal infantile hypertonic alpha-B crystallin-related.; ","cross_references":"MeSH; D020914.","definition":"A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. ","keywords":"KW-1060:Myofibrillar myopathy.; "},{"identifier":"Myopathy, myofibrillar, 6.","acronym":"MFM6.","accession":"DI-02541","synonyms":"MFM BAG3-related.; Muscular dystrophy Selcen type.; Myopathy myofibrillar BAG3-related.; ","cross_references":"MeSH; D020914.","definition":"A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. ","keywords":"KW-1060:Myofibrillar myopathy.; "},{"identifier":"Trigonocephaly 1.","acronym":"TRIGNO1.","accession":"DI-02068","synonyms":"Metopic craniosynostosis.; ","cross_references":"MeSH; D003398.","definition":"A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Trigonocephaly 2.","acronym":"TRIGNO2.","accession":"DI-03386","synonyms":"Metopic craniosynostosis.; ","cross_references":"MeSH; D003398.","definition":"A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Methylmalonic aciduria type cblB.","acronym":"MMAB.","accession":"DI-00748","synonyms":"Methylmalonic aciduria type B.; Vitamin B12 responsive methylmalonic acidemia type cbl B.; Vitamin B12 responsive methylmalonic aciduria type cbl B.; ","cross_references":"MeSH; D008661.","definition":"A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. ","keywords":null},{"identifier":"Methylmalonic aciduria type cblA.","acronym":"MMAA.","accession":"DI-00747","synonyms":"Methylmalonic aciduria type A.; Vitamin B12 responsive methylmalonic acidemia type cbl A.; Vitamin B12 responsive methylmalonic aciduria type cbl A.; ","cross_references":"MeSH; D008661.","definition":"A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. ","keywords":null},{"identifier":"Methylmalonyl-CoA epimerase deficiency.","acronym":"MCEED.","accession":"DI-01974","synonyms":"Methylmalonic aciduria III.; Methylmalonic aciduria type 3.; Methylmalonyl-CoA racemase deficiency.; ","cross_references":"MedGen; C1855101.","definition":"Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. ","keywords":null}]}