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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2960&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2920&ordering=synonyms",
"results": [
{
"identifier": "Legius syndrome.",
"acronym": "LGSS.",
"accession": "DI-02046",
"synonyms": "Neurofibromatosis 1-like syndrome.; NFLS.; ",
"cross_references": "MeSH; D019080.",
"definition": "An autosomal dominant syndrome characterized mainly by cafe-au-lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities, and features of attention deficit-hyperactivity disorder. ",
"keywords": null
},
{
"identifier": "Neurofibromatosis 1.",
"acronym": "NF1.",
"accession": "DI-02396",
"synonyms": "Neurofibromatosis peripheral type.; Von Recklinghausen disease.; von Recklinghausen syndrome.; ",
"cross_references": "MeSH; D009456.",
"definition": "A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. ",
"keywords": null
},
{
"identifier": "Melanosis, neurocutaneous.",
"acronym": "NCMS.",
"accession": "DI-04100",
"synonyms": "Neuromelanosis.; ",
"cross_references": "MeSH; D020752.",
"definition": "A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma. ",
"keywords": null
},
{
"identifier": "Neuromuscular oculoauditory syndrome.",
"acronym": "NMOAS.",
"accession": "DI-05734",
"synonyms": "Neuromuscular disease and ocular or auditory anomalies with or without seizures.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 13 (Kufs type).",
"acronym": "CLN13.",
"accession": "DI-03853",
"synonyms": "Neuronal ceroid lipofuscinosis 13 Kufs type.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 6.",
"acronym": "CLN6.",
"accession": "DI-00814",
"synonyms": "Neuronal ceroid lipofuscinosis 6 with variable age at onset.; Variant late-onset infantile neuronal ceroid lipofuscinosis.; vLINCL.; ",
"cross_references": "MeSH; D009472.",
"definition": "An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 10.",
"acronym": "HMNR10.",
"accession": "DI-06778",
"synonyms": "Neuropathy, distal hereditary motor, autosomal recessive 10.; VRK1-related motor neuron disease.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR10 is a slowly progressive form characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs, and resulting in gait abnormalities. Upper limb involvement is seen in some patients. HMNR10 has mostly juvenile or adult onset, although symptoms may manifest in infancy or childhood in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 9.",
"acronym": "HMNR9.",
"accession": "DI-06769",
"synonyms": "Neuropathy, distal hereditary motor, autosomal recessive 9.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR9 is a slowly progressive form characterized by juvenile onset of distal muscle weakness and atrophy particularly affecting the lower limbs, although most patients also have upper limb involvement. Additional features include pes cavus, foot drop, and inability to walk on the heels or tiptoes. Some patients may have mild sensory abnormalities or pyramidal signs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 9, with developmental delay.",
"acronym": "HSAN9.",
"accession": "DI-03681",
"synonyms": "Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay.; Spastic paraplegia 49, autosomal recessive.; SPG49.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN9 is characterized by global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Niemann-Pick disease C1.",
"acronym": "NPC1.",
"accession": "DI-02055",
"synonyms": "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia.; Niemann-Pick disease chronic neuronopathic form.; Niemann-Pick disease Nova Scotian type.; Niemann-Pick disease subacute juvenile form.; Niemann-Pick disease type D.; Niemann-Pick disease type II.; Niemann-Pick disease with cholesterol esterification block.; Niemann-Pick disease without sphingomyelinase deficiency.; NPC.; ",
"cross_references": "MeSH; D052556.",
"definition": "A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
},
{
"identifier": "Neutral lipid storage disease with myopathy.",
"acronym": "NLSDM.",
"accession": "DI-02050",
"synonyms": "Neutral lipid storage disease without ichthyosis.; ",
"cross_references": "MedGen; C1853136.",
"definition": "Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride- containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis.",
"acronym": "IMD73A.",
"accession": "DI-02051",
"synonyms": "Neutrophil immunodeficiency syndrome.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, invasive infections, and poor wound healing. ",
"keywords": null
},
{
"identifier": "Nevus spilus.",
"acronym": "NEVUSPI.",
"accession": "DI-04451",
"synonyms": "Nevoid lentigo.; Speckled lentiginous nevus.; ",
"cross_references": "MeSH; D009508.",
"definition": "A congenital hyperpigmented patch, which progressively evolves, developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanoma. ",
"keywords": null
},
{
"identifier": "Spitz nevus.",
"acronym": "SPITZN.",
"accession": "DI-04452",
"synonyms": "Nevus, spindle cell and epithelioid.; Nevus, Spitz.; Spindle cell and epithelioid nevus.; ",
"cross_references": "MeSH; D018332.",
"definition": "A benign melanocytic neoplasm composed of epithelioid or spindle cell melanocytes. Spitz nevi usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 12, with autoimmunity.",
"acronym": "CVID12.",
"accession": "DI-04553",
"synonyms": "NFKB1 deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. About half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. ",
"keywords": null
},
{
"identifier": "Niemann-Pick disease B.",
"acronym": "NPDB.",
"accession": "DI-02054",
"synonyms": "Niemann-Pick disease adult non-neuronopathic form.; Niemann-Pick disease intermediate with visceral involvement and rapid progression.; Niemann-Pick disease type E.; Niemann-Pick disease type F.; Niemann-Pick disease type I.; Niemann-Pick disease visceral form.; NPB.; Sphingomyelinase deficiency.; Sphingomyelin lipidosis.; ",
"cross_references": "MeSH; D052537.",
"definition": "A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
},
{
"identifier": "Palmoplantar keratoderma, non-epidermolytic, focal or diffuse.",
"acronym": "PPKNEFD.",
"accession": "DI-04096",
"synonyms": "Nonepidermolytic focal or diffuse palmoplantar keratoderma.; ",
"cross_references": "MeSH; D007645.",
"definition": "A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Keratoderma, palmoplantar, non-epidermolytic.",
"acronym": "NEPPK.",
"accession": "DI-00894",
"synonyms": "Nonepidermolytic palmoplantar keratoderma.; Nonepidermolytic Unna-Thost disease.; Non-epidermolytic Unna-Thost disease.; Tylosis.; ",
"cross_references": "MeSH; D007645.",
"definition": "A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Auditory neuropathy, autosomal dominant 1.",
"acronym": "AUNA1.",
"accession": "DI-03423",
"synonyms": "Nonsyndromic auditory neuropathy autosomal dominant.; NSDAN.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. ",
"keywords": "KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Auditory neuropathy, autosomal recessive, 1.",
"acronym": "AUNB1.",
"accession": "DI-02064",
"synonyms": "Nonsyndromic auditory neuropathy autosomal recessive.; NSRAN.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive. ",
"keywords": "KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "
}
]
}