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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6680&ordering=-synonyms",
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"results": [
{
"identifier": "Birbeck granule deficiency.",
"acronym": "BIRGD.",
"accession": "DI-02857",
"synonyms": "Absence of Birbeck granules.; ",
"cross_references": "MedGen; C3150657.",
"definition": "A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity. ",
"keywords": null
},
{
"identifier": "Adams-Oliver syndrome 1.",
"acronym": "AOS1.",
"accession": "DI-03194",
"synonyms": "Absence defect of limbs scalp and skull.; Aplasia cutis congenita with terminal transverse limb defects.; Congenital scalp defects with distal limb reduction anomalies.; ",
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Bartter syndrome 2, antenatal.",
"acronym": "BARTS2.",
"accession": "DI-00174",
"synonyms": "aBS2.; Antenatal Bartter syndrome 2.; Bartter syndrome 2.; BS2.; Hyperprostanglandin E syndrome 2.; Hypokalemic alkalosis with hypercalciuria antenatal 2.; ",
"cross_references": "MeSH; D001477.",
"definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. ",
"keywords": "KW-0910:Bartter syndrome.; "
},
{
"identifier": "Bartter syndrome 1, antenatal.",
"acronym": "BARTS1.",
"accession": "DI-00173",
"synonyms": "aBS1.; Antenatal Bartter syndrome 1.; BS1.; Hyperprostaglandin E syndrome 1.; Hypokalemic alkalosis with hypercalciuria antenatal 1.; ",
"cross_references": "MeSH; D001477.",
"definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. ",
"keywords": "KW-0910:Bartter syndrome.; "
},
{
"identifier": "Trichothiodystrophy 4, non-photosensitive.",
"acronym": "TTD4.",
"accession": "DI-01105",
"synonyms": "ABHS.; Amish brittle hair brain syndrome.; BIDS syndrome.; Hair-brain syndrome.; Pollitt syndrome.; Trichorrhexis nodosa syndrome.; Trichothiodystrophy, nonphotosensitive 1.; Trichothiodystrophy-neurocutaneous syndrome.; Trichothiodystrophy non-photosensitive 1.; TTDN1.; ",
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity. ",
"keywords": null
},
{
"identifier": "Prune belly syndrome.",
"acronym": "PBS.",
"accession": "DI-03312",
"synonyms": "Abdominal muscle deficiency syndrome.; Absence of abdominal muscles with urinary tract abnormality and cryptorchidism.; Eagle-Barrett syndrome.; EGBRS.; ",
"cross_references": "MeSH; D011535.",
"definition": "A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. ",
"keywords": null
},
{
"identifier": "Loeys-Dietz syndrome 1.",
"acronym": "LDS1.",
"accession": "DI-00675",
"synonyms": "AAT5.; Familial thoracic aortic aneurysm 5.; Furlong syndrome.; LDAS.; Loeys-Dietz aortic aneurysm syndrome.; Marfanoid disorder-craniosynostosis syndrome.; ",
"cross_references": "MeSH; D055947.",
"definition": "An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. ",
"keywords": "KW-0989:Craniosynostosis.; KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Loeys-Dietz syndrome 2.",
"acronym": "LDS2.",
"accession": "DI-00677",
"synonyms": "AAT3.; Familial aortic aneurysm thoracic type 3.; Marfan syndrome type 2.; MFS2.; TAAD2.; Thoracic aortic aneurysms and dissection 2.; ",
"cross_references": "MeSH; D055947.",
"definition": "An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. ",
"keywords": "KW-0989:Craniosynostosis.; KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Diamond-Blackfan anemia 1.",
"acronym": "DBA1.",
"accession": "DI-00392",
"synonyms": "Aase-Smith syndrome II.; Aase syndrome.; BDS.; Blackfan-Diamond syndrome.; Chronic congenital aregenerative anemia.; Congenital erythroid hypoplastic anemia.; Congenital hypoplastic anemia of Blackfan and Diamond.; DBA.; Erythrogenesis imperfecta.; Pure hereditary red cell aplasia.; ",
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 6.",
"acronym": "DBA6.",
"accession": "DI-00396",
"synonyms": "Aase-Smith syndrome II.; Aase syndrome.; ",
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Limb pelvis hypoplasia aplasia syndrome.",
"acronym": "LPHAS.",
"accession": "DI-01908",
"synonyms": "AARRS.; Absence of ulna and fibula with severe limb deficiency.; Al-Awadi/Raas-Rothschild syndrome.; Limb/pelvis/uterus-hypoplasia/aplasia syndrome.; Limb/pelvis-hypoplasia/aplasia syndrome.; Schinzel phocomelia syndrome.; ",
"cross_references": "MeSH; D004480.",
"definition": "A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present. ",
"keywords": null
},
{
"identifier": "Ichthyosis with confetti.",
"acronym": "IWC.",
"accession": "DI-02981",
"synonyms": "Aarau disease.; CRIE.; Erythroderma, ichthyosiform, congenital reticular.; Ichthyosis variegata.; Reticular erythrokeratoderma.; ",
"cross_references": "MeSH; D016113.",
"definition": "An autosomal dominant, rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Sveinsson chorioretinal atrophy.",
"acronym": "SCRA.",
"accession": "DI-02349",
"synonyms": "AA.; Atrophia areata.; Helicoidal peripapillary chorioretinal degeneration.; HPCD.; ",
"cross_references": "MedGen; C1862382.",
"definition": "Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid. ",
"keywords": null
},
{
"identifier": "Kleefstra syndrome 1.",
"acronym": "KLEFS1.",
"accession": "DI-01348",
"synonyms": "9q- syndrome.; Chromosome 9q34.3 deletion syndrome.; Chromosome 9q subtelomeric deletion syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Diabetes mellitus, transient neonatal, 1.",
"acronym": "TNDM1.",
"accession": "DI-02380",
"synonyms": "6q24-related diabetes mellitus.; ",
"cross_references": "MeSH; D003920.",
"definition": "An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, A.",
"acronym": "HPABH4A.",
"accession": "DI-01277",
"synonyms": "6-pyruvoyl-tetrahydropterin synthase deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency.; PTPSD.; PTSD.; PTS deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. ",
"keywords": null
},
{
"identifier": "Glutathione synthetase deficiency.",
"acronym": "GSS deficiency.",
"accession": "DI-01673",
"synonyms": "5-oxoprolinuria.; Pyroglutamic aciduria.; ",
"cross_references": "MedGen; C0398746.",
"definition": "Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. ",
"keywords": null
},
{
"identifier": "Pseudovaginal perineoscrotal hypospadias.",
"acronym": "PPSH.",
"accession": "DI-02230",
"synonyms": "5-ARD deficiency.; Familial incomplete male pseudohermaphroditism type 2.; Male pseudohermaphroditism due to 5-alpha-reductase deficiency.; ",
"cross_references": "MeSH; D058490.",
"definition": "A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Tyrosinemia 3.",
"acronym": "TYRSN3.",
"accession": "DI-01109",
"synonyms": "4-hydroxyphenylpyruvate dioxygenase deficiency.; 4-hydroxyphenylpyruvic acid oxidase deficiency.; Tyrosinemia type III.; ",
"cross_references": "MeSH; D020176.",
"definition": "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Succinic semialdehyde dehydrogenase deficiency.",
"acronym": "SSADHD.",
"accession": "DI-02345",
"synonyms": "4-hydroxybutyric aciduria.; GABA metabolic defect.; Gamma-hydroxybutyric aciduria.; SSADH deficiency.; Succinate semialdehyde dehydrogenase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. ",
"keywords": null
}
]
}