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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1220&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1180&ordering=synonyms",
"results": [
{
"identifier": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions.",
"acronym": "EPM3.",
"accession": "DI-00955",
"synonyms": "CLN14.; Neuronal ceroid lipofuscinosis 14.; Progressive myoclonic epilepsy 3.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; KW-0887:Epilepsy.; "
},
{
"identifier": "Ectodermal dysplasia 2, Clouston type.",
"acronym": "ECTD2.",
"accession": "DI-00431",
"synonyms": "Clouston syndrome.; Ectodermal dysplasia 2 hidrotic.; Ectodermal dysplasia hidrotic autosomal dominant.; ED2.; HED2.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Thanatophoric dysplasia 2.",
"acronym": "TD2.",
"accession": "DI-03093",
"synonyms": "Cloverleaf skull with thanatophoric dwarfism.; Thanatophoric dysplasia type II.; Thanatophoric dysplasia with kleeblattschaedel.; Thanatophoric dysplasia with straight femurs and cloverleaf skull.; ",
"cross_references": "MeSH; D013796.",
"definition": "A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.",
"acronym": "CLOVE.",
"accession": "DI-03487",
"synonyms": "CLOVES syndrome.; CLOVE syndrome.; Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities.; ",
"cross_references": "MeSH; D009506.",
"definition": "A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 1A.",
"acronym": "ARCL1A.",
"accession": "DI-01236",
"synonyms": "CL type I.; Cutis laxa autosomal recessive type I.; Cutis laxa autosomal recessive type IA.; ",
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 2B.",
"acronym": "ARCL2B.",
"accession": "DI-01462",
"synonyms": "CL type IIB.; Cutis laxa autosomal recessive type IIB.; Cutis laxa with progeroid features.; ",
"cross_references": "MeSH; D003483.",
"definition": "A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities. ",
"keywords": null
},
{
"identifier": "Digital clubbing, isolated congenital.",
"acronym": "DIGC.",
"accession": "DI-02474",
"synonyms": "Clubbing of digits.; Hereditary acropachy.; ",
"cross_references": "MeSH; D009260.",
"definition": "A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. ",
"keywords": null
},
{
"identifier": "Retinal degeneration autosomal recessive clumped pigment type.",
"acronym": "RDCP.",
"accession": "DI-03088",
"synonyms": "Clumped pigmentary retinal degeneration.; ",
"cross_references": "MeSH; D012162.",
"definition": "A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short- wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. ",
"keywords": null
},
{
"identifier": "Autoinflammatory disease, familial, Behcet-like 3.",
"acronym": "AIFBL3.",
"accession": "DI-05466",
"synonyms": "CMCU.; Mucocutaneous ulceration, chronic.; ",
"cross_references": "MeSH; D012883.",
"definition": "An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. ",
"keywords": null
},
{
"identifier": "Craniometaphyseal dysplasia, autosomal dominant.",
"acronym": "CMDD.",
"accession": "DI-01445",
"synonyms": "CMDJ.; Craniometaphyseal dysplasia Jackson type.; ",
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ",
"keywords": null
},
{
"identifier": "Tumor predisposition syndrome 3.",
"acronym": "TPDS3.",
"accession": "DI-04136",
"synonyms": "CMM10.; Glioma 9.; GLM9.; Long telomere syndrome, POT1-related.; Melanoma, cutaneous malignant 10.; ",
"cross_references": "MeSH; D008545.",
"definition": "An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.",
"acronym": "NEDHND.",
"accession": "DI-05015",
"synonyms": "CMND.; Myopathy, congenital, with neuropathy and deafness.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Chronic recurrent multifocal osteomyelitis 3.",
"acronym": "CRMO3.",
"accession": "DI-06753",
"synonyms": "CMO.; Osteomyelitis, chronic multifocal.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant autoinflammatory bone disease characterized by early-childhood onset of bone pain and arthritis caused by sterile osteomyelitis. ",
"keywords": null
},
{
"identifier": "Myasthenic syndrome, congenital, 4A, slow-channel.",
"acronym": "CMS4A.",
"accession": "DI-04397",
"synonyms": "CMS1A1.; CMS Ia1.; Congenital myasthenic syndrome type Ia1.; Myasthenia, familial infantile, 1.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 6, presynaptic.",
"acronym": "CMS6.",
"accession": "DI-00370",
"synonyms": "CMS1A.; CMSEA.; CMS-EA.; CMS Ia.; Congenital myasthenic syndrome pre-synaptic associated with episodic apnea.; Congenital myasthenic syndrome type 1a.; Congenital myasthenic syndrome type Ia.; Familial infantile myasthenia gravis 2.; FIMG2.; Myasthenic syndrome, congenital, associated with episodic apnea.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 10.",
"acronym": "CMS10.",
"accession": "DI-00494",
"synonyms": "CMS1B.; CMS Ib.; Congenital myasthenic syndrome type 1b.; Congenital myasthenic syndrome type Ib.; LGM.; Myasthenia, limb-girdle, familial.; Myasthenic myopathy.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 5.",
"acronym": "CMS5.",
"accession": "DI-00366",
"synonyms": "CMS1C.; CMSE.; CMS Ic.; Congenital myasthenic syndrome type 1c.; Congenital myasthenic syndrome type Ic.; EAD.; Endplate acetylcholinesterase deficiency.; End-plate acetylcholinesterase deficiency.; Engel congenital myasthenic syndrome.; Myasthenic syndrome, congenital, Engel type.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.",
"acronym": "CMS4C.",
"accession": "DI-00369",
"synonyms": "CMS1D.; CMS1E.; CMS-ACHRD.; CMS Id.; CMS Ie.; Congenital myasthenic syndrome post-synaptic associated with acetylcholine receptor deficiency.; Congenital myasthenic syndrome type 1d.; Congenital myasthenic syndrome type 1e.; Congenital myasthenic syndrome type Id.; Congenital myasthenic syndrome type Ie.; Congenital myasthenic syndrome with facial dysmorphism associated with acetylcholine receptor deficiency.; FIM1.; Myasthenia, familial infantile, 1.; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.",
"acronym": "CMS11.",
"accession": "DI-04401",
"synonyms": "CMS1E.; CMS Ie.; Myasthenic syndrome, congenital, Ie.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 1A, slow-channel.",
"acronym": "CMS1A.",
"accession": "DI-00368",
"synonyms": "CMS2A.; CMS IIa.; Congenital myasthenic syndrome post-synaptic slow-channel.; Congenital myasthenic syndrome type IIa.; Myasthenic syndrome, congenital, slow-channel.; SCCMS.; ",
"cross_references": "MeSH; D020294.",
"definition": "A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
}
]
}