HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1420&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1380&ordering=synonyms",
"results": [
{
"identifier": "Craniosynostosis 7.",
"acronym": "CRS7.",
"accession": "DI-04994",
"synonyms": "Craniosynostosis 7, digenic.; ",
"cross_references": "MeSH; D003398.",
"definition": "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Craniosynostosis 2.",
"acronym": "CRS2.",
"accession": "DI-00382",
"synonyms": "Craniosynostosis Boston type.; Craniosynostosis Boston-type.; Craniosynostosis Warman type.; Craniosynostosis Warman-type.; CSB.; Warman-Mulliken-Hayward syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Jackson-Weiss syndrome.",
"acronym": "JWS.",
"accession": "DI-00602",
"synonyms": "Craniosynostosis-midfacial hypoplasia-foot abnormalities.; ",
"cross_references": "MeSH; D005532.",
"definition": "An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Baller-Gerold syndrome.",
"acronym": "BGS.",
"accession": "DI-00158",
"synonyms": "Craniosynostosis-radial aplasia syndrome.; Craniosynostosis with radial defects.; ",
"cross_references": "MeSH; D003398.",
"definition": "An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. ",
"keywords": "KW-0242:Dwarfism.; KW-0989:Craniosynostosis.; "
},
{
"identifier": "Shprintzen-Goldberg craniosynostosis syndrome.",
"acronym": "SGS.",
"accession": "DI-01027",
"synonyms": "Craniosynostosis with arachnodactyly and abdominal hernias.; Marfanoid craniosynostosis syndrome.; Marfanoid disorder with craniosynostosis type I.; ",
"cross_references": "MeSH; D054119.",
"definition": "A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, intellectual disability, developmental delay and learning disabilities. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "3MC syndrome 1.",
"acronym": "3MC1.",
"accession": "DI-03129",
"synonyms": "Craniosynostosis with lid anomalies.; Michels syndrome.; Oculopalatoskeletal syndrome.; ",
"cross_references": "MeSH; D005141.",
"definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ",
"keywords": null
},
{
"identifier": "Radiohumeral fusions with other skeletal and craniofacial anomalies.",
"acronym": "RHFCA.",
"accession": "DI-03424",
"synonyms": "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies.; ",
"cross_references": "MeSH; D013580.",
"definition": "A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Cerebral creatine deficiency syndrome 2.",
"acronym": "CCDS2.",
"accession": "DI-01690",
"synonyms": "Creatine deficiency syndrome due to GAMT deficiency.; GAMT deficiency.; Guanidinoacetate methyltransferase deficiency.; ",
"cross_references": "MeSH; D009069.",
"definition": "An autosomal recessive disorder characterized by developmental delay and regression, intellectual disability, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. ",
"keywords": null
},
{
"identifier": "Cerebral creatine deficiency syndrome 1.",
"acronym": "CCDS1.",
"accession": "DI-02440",
"synonyms": "Creatine transporter defect.; X-linked creatine deficiency syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 6.",
"acronym": "AGS6.",
"accession": "DI-03668",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 5.",
"acronym": "AGS5.",
"accession": "DI-02499",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 4.",
"acronym": "AGS4.",
"accession": "DI-00069",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 3.",
"acronym": "AGS3.",
"accession": "DI-00068",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 2.",
"acronym": "AGS2.",
"accession": "DI-00067",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Crisponi/Cold-induced sweating syndrome 1.",
"acronym": "CISS1.",
"accession": "DI-01356",
"synonyms": "Crisponi syndrome.; Muscle contractions tetanoform with characteristic face camptodactyly hyperthermia and sudden death.; Sohar-Crisponi syndrome.; ",
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. ",
"keywords": null
},
{
"identifier": "Inflammatory bowel disease 1.",
"acronym": "IBD1.",
"accession": "DI-01452",
"synonyms": "Crohn disease.; Crohn disease-associated growth failure.; Inflammatory bowel disease (Crohn disease) 1.; Regional enteritis.; Ulcerative colitis.; ",
"cross_references": "MeSH; D003424.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ",
"keywords": null
},
{
"identifier": "Pseudohyperkalemia, familial, 2, due to red cell leak.",
"acronym": "PSHK2.",
"accession": "DI-04131",
"synonyms": "Cryohydrocytosis, mild.; Pseudohyperkalemia Cardiff.; Pseudohyperkalemia Chiswick.; Pseudohyperkalemia East London.; Pseudohyperkalemia Falkirk.; Pseudohyperkalemia Lille.; ",
"cross_references": "MeSH; D006947.",
"definition": "A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape. ",
"keywords": null
},
{
"identifier": "Cirrhosis.",
"acronym": "CIRRH.",
"accession": "DI-01454",
"synonyms": "Cryptogenic cirrhosis.; ",
"cross_references": "MedGen; C1876166.",
"definition": "A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Dystonia 9.",
"acronym": "DYT9.",
"accession": "DI-03550",
"synonyms": "CSE.; Dystonia-9.; Episodic choreoathetosis/spasticity.; Kinesigenic choreoathetosis with episodic ataxia and spasticity.; Paroxysmal choreoathetosis with episodic ataxia.; ",
"cross_references": "MeSH; D009128.",
"definition": "An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Pulmonary surfactant metabolism dysfunction 5.",
"acronym": "SMDP5.",
"accession": "DI-03322",
"synonyms": "CSF2RB deficiency.; PAP5.; PAP due to CSF2RB deficiency.; Pulmonary alveolar proteinosis 5.; ",
"cross_references": "MeSH; D011649.",
"definition": "A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ",
"keywords": null
}
]
}