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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=440&ordering=synonyms",
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"results": [
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2B2.",
"acronym": "CMT2B2.",
"accession": "DI-02671",
"synonyms": "ARCMT2B.; Charcot-Marie-Tooth disease axonal autosomal recessive B2.; Charcot-Marie-Tooth disease axonal type 2B2.; Charcot-Marie-Tooth disease neuronal type 2B2.; Charcot-Marie-Tooth neuropathy type 2B2.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Arthrogryposis, renal dysfunction and cholestasis syndrome 1.",
"acronym": "ARCS1.",
"accession": "DI-00136",
"synonyms": "ARCS.; ARC syndrome.; Arthrogryposis renal dysfunction and cholestasis 1.; ",
"cross_references": "MeSH; D051437.",
"definition": "A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. ",
"keywords": null
},
{
"identifier": "Peeling skin syndrome 4.",
"acronym": "PSS4.",
"accession": "DI-03298",
"synonyms": "AREI.; Exfoliative ichthyosis, autosomal recessive.; Exfoliative ichthyosis autosomal recessive IBS-like.; Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like.; ",
"cross_references": "MeSH; D007057.",
"definition": "A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non- erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Argininemia.",
"acronym": "ARGIN.",
"accession": "DI-00132",
"synonyms": "ARG1 deficiency.; Arginase-1 deficiency.; Arginase deficiency.; Hyperargininemia.; ",
"cross_references": "MeSH; D020162.",
"definition": "A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, intellectual disability, hypotonia, ataxia and progressive spastic quadriplegia. ",
"keywords": null
},
{
"identifier": "Intestinal carcinoid tumor.",
"acronym": "ICT.",
"accession": "DI-02614",
"synonyms": "Argentaffinoma.; Carcinoid.; Gastrointestinal carcinoid tumor.; ",
"cross_references": "MeSH; D002276.",
"definition": "A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract. ",
"keywords": null
},
{
"identifier": "Argininosuccinic aciduria.",
"acronym": "ARGINSA.",
"accession": "DI-00133",
"synonyms": "Argininosuccinase deficiency.; Argininosuccinic acid lyase deficiency.; ASAuria.; ASL deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. ",
"keywords": null
},
{
"identifier": "Citrullinemia 1.",
"acronym": "CTLN1.",
"accession": "DI-00309",
"synonyms": "Argininosuccinate synthetase deficiency.; ASS deficiency.; Citrullinemia type I.; Citrullinuria.; Classic citrullinemia.; ",
"cross_references": "MeSH; D020159.",
"definition": "The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. ",
"keywords": null
},
{
"identifier": "Hypercholesterolemia, familial, 4.",
"acronym": "FHCL4.",
"accession": "DI-01242",
"synonyms": "ARH.; ARH1.; ARH2.; Autosomal recessive hypercholesterolemia 1.; Autosomal recessive hypercholesterolemia 2.; FHCB1.; FHCB2.; Hypercholesterolemia, autosomal recessive.; ",
"cross_references": "MeSH; D006937.",
"definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bosma arhinia microphthalmia syndrome.",
"acronym": "BAMS.",
"accession": "DI-04955",
"synonyms": "Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism.; Arhinia choanal atresia microphthalmia.; Bosma Henkin Christiansen syndrome.; Congenital absence of nose and anterior nasopharynx.; ",
"cross_references": "MeSH; D000013.",
"definition": "An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. ",
"keywords": "KW-0956:Kallmann syndrome.; KW-1013:Microphthalmia.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Hypophosphatemic rickets, autosomal recessive, 1.",
"acronym": "ARHR1.",
"accession": "DI-01243",
"synonyms": "ARHP.; Hypophosphatemia autosomal recessive.; ",
"cross_references": "MeSH; D012279.",
"definition": "A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. ",
"keywords": null
},
{
"identifier": "Spastic paraplegia 11, autosomal recessive.",
"acronym": "SPG11.",
"accession": "DI-01045",
"synonyms": "ARHSP-TCC.; Autosomal recessive spastic paraplegia with thinning of corpus callosum.; HSP-TCC.; Spastic paraplegia autosomal recessive complicated with thin corpus callosum.; Spastic paraplegia autosomal recessive with mental impairment and thin corpus callosum.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 11.",
"acronym": "ARCI11.",
"accession": "DI-04098",
"synonyms": "ARIH.; Autosomal recessive ichthyosis with hypotrichosis.; Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis.; IFAH.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Keratoderma-ichthyosis-deafness syndrome, autosomal recessive.",
"acronym": "KDIDAR.",
"accession": "DI-06486",
"synonyms": "ARKID syndrome.; ",
"cross_references": "MeSH; D007645.",
"definition": "An autosomal recessive disorder characterized by severe palmoplantar keratoderma, generalized ichthyosis, and sensorineural bilateral hearing loss. Additional variable features include contractures, mild bleeding diathesis, and psychomotor retardation. ",
"keywords": "KW-0209:Deafness.; KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Aromatic L-amino-acid decarboxylase deficiency.",
"acronym": "AADCD.",
"accession": "DI-00135",
"synonyms": "Aromatic-L-amino-acid decarboxylase deficiency.; DDC deficiency.; DOPA decarboxylase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Periventricular nodular heterotopia 2.",
"acronym": "PVNH2.",
"accession": "DI-00911",
"synonyms": "ARPHM.; Autosomal recessive periventricular nodular heterotopia type 2.; Periventricular heterotopia autosomal recessive.; Periventricular heterotopia with microcephaly autosomal recessive.; ",
"cross_references": "MeSH; D054091.",
"definition": "A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2. ",
"keywords": null
},
{
"identifier": "Polycystic kidney disease 4, with or without polycystic liver disease.",
"acronym": "PKD4.",
"accession": "DI-00927",
"synonyms": "ARPKD.; Infantile polycystic kidney disease type I.; PKD3.; PKHD1.; Polycystic kidney and hepatic disease 1.; Polycystic kidney disease, autosomal recessive.; Polycystic kidney disease 4 with or without hepatic disease.; ",
"cross_references": "MeSH; D017044.",
"definition": "A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 10.",
"acronym": "ARVD10.",
"accession": "DI-01554",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 10.; ARVC10.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 11.",
"acronym": "ARVD11.",
"accession": "DI-01555",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 11.; ARVC11.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 12.",
"acronym": "ARVD12.",
"accession": "DI-01556",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 12.; ARVC12.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arrhythmogenic right ventricular dysplasia, familial, 13.",
"acronym": "ARVD13.",
"accession": "DI-04014",
"synonyms": "Arrhythmogenic right ventricular cardiomyopathy 13.; ARVC13.; ",
"cross_references": "MeSH; D019571.",
"definition": "A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}