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"count": 6723,
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{
"identifier": "Arthrogryposis, distal, 12.",
"acronym": "DA12.",
"accession": "DI-06779",
"synonyms": "Arthrogryposis, distal, type 12.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA12 is an autosomal recessive form characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include knee, Achilles tendon, and toe contractures, spinal stiffness, scoliosis, and orthodontic abnormalities. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 1A.",
"acronym": "DA1A.",
"accession": "DI-01491",
"synonyms": "AMC.; AMCD1.; Arthrogryposis multiplex congenita.; Arthrogryposis multiplex congenita distal type 1.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 1B.",
"acronym": "DA1B.",
"accession": "DI-03302",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 1C.",
"acronym": "DA1C.",
"accession": "DI-05980",
"synonyms": "Arthrogryposis, distal, type 1C.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2A.",
"acronym": "DA2A.",
"accession": "DI-01492",
"synonyms": "Craniocarpotarsal dysplasia.; Craniocarpotarsal dystrophy.; Freeman-Sheldon syndrome.; FSS.; Whistling face-windmill vane hand syndrome.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B1.",
"acronym": "DA2B1.",
"accession": "DI-01493",
"synonyms": "AMCD2B.; Arthrogryposis multiplex congenita distal type 2B.; Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities.; Freeman-Sheldon syndrome variant.; FSSV.; Sheldon-Hall syndrome.; SHS.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B2.",
"acronym": "DA2B2.",
"accession": "DI-05569",
"synonyms": "Arthrogryposis, distal, type 2B2.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B3.",
"acronym": "DA2B3.",
"accession": "DI-05570",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 2B4.",
"acronym": "DA2B4.",
"accession": "DI-05559",
"synonyms": "Arthrogryposis, distal, type 2B4.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 3.",
"acronym": "DA3.",
"accession": "DI-04138",
"synonyms": "Arthrogryposis multiplex congenita, distal, type IIA.; Camptodactyly, cleft palate, and clubfoot.; Gordon syndrome.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 5.",
"acronym": "DA5.",
"accession": "DI-04009",
"synonyms": "Arthrogryposis with oculomotor limitation and electroretinal abnormalities.; DAIIB.; Distal arthrogryposis type IIB.; Oculomelic amyoplasia.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 5D.",
"acronym": "DA5D.",
"accession": "DI-03688",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round- shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 7.",
"acronym": "DA7.",
"accession": "DI-02392",
"synonyms": "Dutch-Kentucky syndrome.; Hecht syndrome.; Trismus-pseudocamptodactyly syndrome.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, with impaired proprioception and touch.",
"acronym": "DAIPT.",
"accession": "DI-04863",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, impaired intellectual development, and seizures.",
"acronym": "AMRS.",
"accession": "DI-03977",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect.",
"acronym": "AMC1.",
"accession": "DI-04998",
"synonyms": "AMCNMY.; Arthrogryposis multiplex congenita, neurogenic, with myelin defect.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 2, neurogenic type.",
"acronym": "AMC2.",
"accession": "DI-05199",
"synonyms": "AMC, neurogenic type.; AMCN.; Arthrogryposis multiplex congenita, neurogenic type.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 3, myogenic type.",
"acronym": "AMC3.",
"accession": "DI-05605",
"synonyms": "AMCM.; Arthrogryposis multiplex congenita, myogenic type.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC3 is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum.",
"acronym": "AMC4.",
"accession": "DI-05753",
"synonyms": "AMCNACC.; Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum.; Zain syndrome.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 5.",
"acronym": "AMC5.",
"accession": "DI-05874",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor. ",
"keywords": null
}
]
}