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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2380&ordering=-synonyms",
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"results": [
{
"identifier": "Fanconi renotubular syndrome 2.",
"acronym": "FRTS2.",
"accession": "DI-02851",
"synonyms": null,
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Fanconi renotubular syndrome 3.",
"acronym": "FRTS3.",
"accession": "DI-03997",
"synonyms": null,
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Coffin-Lowry syndrome.",
"acronym": "CLS.",
"accession": "DI-00313",
"synonyms": null,
"cross_references": "MeSH; D038921.",
"definition": "An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Lessel-Kubisch syndrome.",
"acronym": "LSKB.",
"accession": "DI-05687",
"synonyms": null,
"cross_references": "MeSH; D019588.",
"definition": "An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma- like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension. ",
"keywords": null
},
{
"identifier": "Benign essential blepharospasm.",
"acronym": "BEB.",
"accession": "DI-00180",
"synonyms": null,
"cross_references": "MeSH; D001764.",
"definition": "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 10.",
"acronym": "HPS10.",
"accession": "DI-04775",
"synonyms": null,
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Coffin-Siris syndrome 11.",
"acronym": "CSS11.",
"accession": "DI-05763",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Fatal familial insomnia.",
"acronym": "FFI.",
"accession": "DI-01607",
"synonyms": null,
"cross_references": "MedGen; C0206042.",
"definition": "Autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia. ",
"keywords": null
},
{
"identifier": "Faundes-Banka syndrome.",
"acronym": "FABAS.",
"accession": "DI-06142",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphic features. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 13.",
"acronym": "COXPD13.",
"accession": "DI-03613",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Coffin-Siris syndrome 12.",
"acronym": "CSS12.",
"accession": "DI-06109",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Febrile seizures, familial, 2.",
"acronym": "FEB2.",
"accession": "DI-06236",
"synonyms": null,
"cross_references": "MeSH; D003294.",
"definition": "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. FEB2 transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": null
},
{
"identifier": "Bent bone dysplasia syndrome 2.",
"acronym": "BBDS2.",
"accession": "DI-06527",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function. ",
"keywords": null
},
{
"identifier": "Impaired intellectual development, anterior maxillary protrusion, and strabismus.",
"acronym": "MRAMS.",
"accession": "DI-02951",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by severe intellectual disability, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Anemia, sideroblastic, 5.",
"acronym": "SIDBA5.",
"accession": "DI-06225",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hydrolethalus syndrome 2.",
"acronym": "HLS2.",
"accession": "DI-03208",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Lethal congenital contracture syndrome 4.",
"acronym": "LCCS4.",
"accession": "DI-03609",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Gilles de la Tourette syndrome.",
"acronym": "GTS.",
"accession": "DI-01660",
"synonyms": null,
"cross_references": "MedGen; C1392622.",
"definition": "Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. ",
"keywords": null
},
{
"identifier": "Ferguson-Bonni neurodevelopmental syndrome.",
"acronym": "FERBON.",
"accession": "DI-06315",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Panhypopituitarism X-linked.",
"acronym": "PHPX.",
"accession": "DI-02125",
"synonyms": null,
"cross_references": "MedGen; C0342376.",
"definition": "Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. ",
"keywords": null
}
]
}