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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5220&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5180&ordering=-synonyms",
"results": [
{
"identifier": "Rajab interstitial lung disease with brain calcifications 1.",
"acronym": "RILDBC1.",
"accession": "DI-05269",
"synonyms": "Developmental delay, small stature, microcephaly, and brain calcifications.; NEDBLLA.; Neurodevelopmental disorder with brain, liver, and lung abnormalities.; Rajab syndrome.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination. ",
"keywords": null
},
{
"identifier": "Chung-Jansen syndrome.",
"acronym": "CHUJANS.",
"accession": "DI-05259",
"synonyms": "Developmental delay, intellectual disability, obesity, and dysmorphic features.; DIDOD.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 15.",
"acronym": "GPIBD15.",
"accession": "DI-05160",
"synonyms": "Developmental delay, epilepsy, cerebellar atrophy, and osteopenia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. ",
"keywords": null
},
{
"identifier": "Pilarowski-Bjornsson syndrome.",
"acronym": "PILBOS.",
"accession": "DI-05102",
"synonyms": "Developmental delay and speech apraxia with or without seizures.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 6B.",
"acronym": "DEE6B.",
"accession": "DI-06102",
"synonyms": "Developmental and epileptic encephalopathy 6B, non-Dravet.; ",
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE6B is an autosomal dominant condition characterized by onset of seizures in early infancy, profoundly impaired intellectual development, and a hyperkinetic movement disorder. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Keratitis-ichthyosis-deafness syndrome, autosomal recessive.",
"acronym": "KIDAR.",
"accession": "DI-05746",
"synonyms": "Desmons syndrome.; Ichthyosiform erythroderma, corneal involvement, and deafness.; KID syndrome, autosomal recessive.; ",
"cross_references": "MeSH; D007634.",
"definition": "An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0977:Ichthyosis.; "
},
{
"identifier": "Dehydrated hereditary stomatocytosis 2.",
"acronym": "DHS2.",
"accession": "DI-04597",
"synonyms": "Desiccytosis Gardos.; Xerocytosis Gardos.; ",
"cross_references": "MeSH; D000745.",
"definition": "An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Desbuquois dysplasia 1.",
"acronym": "DBQD1.",
"accession": "DI-02521",
"synonyms": "Desbuquois syndrome.; Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification.; ",
"cross_references": "MeSH; D019465.",
"definition": "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Vibratory urticaria.",
"acronym": "VBU.",
"accession": "DI-04656",
"synonyms": "Dermodistortive urticaria.; Vibratory angioedema.; ",
"cross_references": "MeSH; D000799.",
"definition": "An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. ",
"keywords": null
},
{
"identifier": "Stevens-Johnson syndrome.",
"acronym": "SJS.",
"accession": "DI-02879",
"synonyms": "Dermatostomatitis Stevens Johnson type.; TEN.; Toxic epidermal necrolysis.; ",
"cross_references": "MeSH; D013262.",
"definition": "A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases. ",
"keywords": null
},
{
"identifier": "Ehlers-Danlos syndrome, dermatosparaxis type.",
"acronym": "EDSDERMS.",
"accession": "DI-00444",
"synonyms": "Dermatosparaxis.; EDS7C.; EDS VIIC.; Ehlers-Danlos syndrome, type VII, autosomal recessive.; Ehlers-Danlos syndrome 7C.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Buschke-Ollendorff syndrome.",
"acronym": "BOS.",
"accession": "DI-01301",
"synonyms": "Dermatofibrosis lenticularis disseminata with osteopoikilosis.; Dermatoosteopoikilosis.; Disseminated dermatofibrosis with osteopoikilosis.; Osteopathia condensans disseminata.; ",
"cross_references": "MeSH; D012873.",
"definition": "A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. ",
"keywords": null
},
{
"identifier": "Dentin dysplasia 1, with extreme microdontia and misshapen teeth.",
"acronym": "DTDP1-MMT.",
"accession": "DI-03348",
"synonyms": "Dentin dysplasia Shields type I.; Radicular dentin dysplasia.; Rootless teeth.; ",
"cross_references": "MeSH; D003805.",
"definition": "A complex dental malformation characterized by extreme microdontia, oligodontia, dental shape anomalies affecting both primary and permanent teeth, double permanent-tooth formation, thin enamel, and very short roots with a thin associated alveolar bone, as seen in the spectrum of dentin dysplasia type 1. ",
"keywords": null
},
{
"identifier": "Dentin dysplasia 1.",
"acronym": "DTDP1.",
"accession": "DI-03347",
"synonyms": "Dentin dysplasia Shields type I.; Radicular dentin dysplasia.; Rootless teeth.; ",
"cross_references": "MeSH; D003805.",
"definition": "A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. ",
"keywords": null
},
{
"identifier": "Primary failure of tooth eruption.",
"acronym": "PFE.",
"accession": "DI-02202",
"synonyms": "Dental non-eruption.; Familial posterior openbite malocclusion.; Non-syndromic primary failure of eruption.; Primary retention of teeth.; Unerupted second primary molar.; ",
"cross_references": "MeSH; D014076.",
"definition": "Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. ",
"keywords": null
},
{
"identifier": "Diabetes mellitus, permanent neonatal, 1.",
"acronym": "PNDM1.",
"accession": "DI-02152",
"synonyms": "DEND.; Developmental delay epilepsy and neonatal diabetes.; Diabetes mellitus permanent neonatal with neurologic features.; PDMI.; Permanent diabetes mellitus of infancy.; ",
"cross_references": "MeSH; D003920.",
"definition": "An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Diabetes mellitus, permanent neonatal, 3.",
"acronym": "PNDM3.",
"accession": "DI-05824",
"synonyms": "DEND2.; Developmental delay, epilepsy, and neonatal diabetes 2.; Diabetes, permanent neonatal 3, with or without neurologic features.; ",
"cross_references": "MeSH; D003920.",
"definition": "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Diabetes mellitus, permanent neonatal, 2.",
"acronym": "PNDM2.",
"accession": "DI-05823",
"synonyms": "DEND1.; Developmental delay, epilepsy, and neonatal diabetes 1.; Diabetes, permanent neonatal 2, with or without neurologic features.; ",
"cross_references": "MeSH; D003920.",
"definition": "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Septooptic dysplasia.",
"acronym": "SOD.",
"accession": "DI-02296",
"synonyms": "de Morsier syndrome.; Septo-optic dysplasia with growth hormone deficiency.; ",
"cross_references": "MeSH; D025962.",
"definition": "A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. ",
"keywords": null
},
{
"identifier": "Pick disease of the brain.",
"acronym": "PIDB.",
"accession": "DI-02937",
"synonyms": "Dementia with lobar atrophy and neuronal cytoplasmic inclusions.; Lobar atrophy of brain.; ",
"cross_references": "MeSH; D020774.",
"definition": "A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}