Human Disease List
GET /api/human_diseases/?format=api&offset=3200&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3220&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3180&ordering=-identifier", "results": [ { "identifier": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.", "acronym": "JP/HHT.", "accession": "DI-01855", "synonyms": null, "cross_references": "MedGen; C1832942.", "definition": "JP/HHT syndrome phenotype consists of the coexistence of juvenile polyposis (JIP) and hereditary hemorrhagic telangiectasia (HHT) [MIM:187300] in a single individual. JIP and HHT are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in SMAD4 or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG or ACVRL1. All four genes encode proteins involved in the transforming-growth-factor-signaling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic etiology of this association is unknown. ", "keywords": null }, { "identifier": "Juvenile myoclonic epilepsy 8.", "acronym": "EJM8.", "accession": "DI-02592", "synonyms": "Susceptibility to juvenile myoclonic epilepsy 8.; ", "cross_references": "MeSH; D020190.", "definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile myoclonic epilepsy 7.", "acronym": "EJM7.", "accession": "DI-02486", "synonyms": "Susceptibility to juvenile myoclonic epilepsy 7.; ", "cross_references": "MeSH; D020190.", "definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile myoclonic epilepsy 6.", "acronym": "EJM6.", "accession": "DI-00614", "synonyms": "Susceptibility to juvenile myoclonic epilepsy 6.; ", "cross_references": "MeSH; D020190.", "definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile myoclonic epilepsy 5.", "acronym": "EJM5.", "accession": "DI-03086", "synonyms": "Susceptibility to juvenile myoclonic epilepsy 5.; ", "cross_references": "MeSH; D020190.", "definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile myoclonic epilepsy 10.", "acronym": "EJM10.", "accession": "DI-05223", "synonyms": null, "cross_references": "MeSH; D020190.", "definition": "A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile myoclonic epilepsy 1.", "acronym": "EJM1.", "accession": "DI-00615", "synonyms": "Janz syndrome.; JME.; Petit mal impulsive.; Susceptibility to juvenile myoclonic epilepsy 1.; ", "cross_references": "MeSH; D020190.", "definition": "A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile arthritis.", "acronym": "JUVAR.", "accession": "DI-05771", "synonyms": null, "cross_references": "MeSH; D001171.", "definition": "A rare, familial form of juvenile arthritis characterized by autosomal recessive inheritance and onset in early childhood of symmetric, chronic joint inflammation. It causes joint swelling, pain, stiffness and restricted joint movement. JUVAR has high clinical variability. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. Others display polyarthritis without systemic inflammation. ", "keywords": null }, { "identifier": "Juvenile absence epilepsy 2.", "acronym": "JAE2.", "accession": "DI-02591", "synonyms": "EJA2.; Susceptibility to juvenile absence epilepsy 2.; ", "cross_references": "MeSH; D004832.", "definition": "A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juvenile absence epilepsy 1.", "acronym": "JAE1.", "accession": "DI-00613", "synonyms": "EJA1.; Susceptibility to juvenile absence epilepsy 1.; ", "cross_references": "MeSH; D004832.", "definition": "A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Juberg-Hayward syndrome.", "acronym": "JHS.", "accession": "DI-06066", "synonyms": "Cleft Lip/Palate with abnormal thumbs and microcephaly.; Cleft lip/palate with radial head and digital anomalies.; Orocraniodigital syndrome.; ", "cross_references": "MeSH; D009958.", "definition": "An autosomal recessive syndrome characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Joubert syndrome 9.", "acronym": "JBTS9.", "accession": "DI-00612", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 8.", "acronym": "JBTS8.", "accession": "DI-00611", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 7.", "acronym": "JBTS7.", "accession": "DI-00610", "synonyms": "Cerebello-oculo-renal syndrome 3.; CORS3.; ", "cross_references": "MeSH; D052177.", "definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 6.", "acronym": "JBTS6.", "accession": "DI-00609", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 5.", "acronym": "JBTS5.", "accession": "DI-00608", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 40.", "acronym": "JBTS40.", "accession": "DI-06240", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS40 inheritance is autosomal recessive. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 4.", "acronym": "JBTS4.", "accession": "DI-00607", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 39.", "acronym": "JBTS39.", "accession": "DI-06239", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS39 inheritance is autosomal recessive. ", "keywords": "KW-0979:Joubert syndrome.; " }, { "identifier": "Joubert syndrome 38.", "acronym": "JBTS38.", "accession": "DI-06194", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS38 inheritance is autosomal recessive. ", "keywords": "KW-0979:Joubert syndrome.; " } ] }