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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3280&ordering=-synonyms",
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"results": [
{
"identifier": "Tardive tibial muscular dystrophy.",
"acronym": "TMD.",
"accession": "DI-02358",
"synonyms": "Udd myopathy.; ",
"cross_references": "MedGen; C1838244.",
"definition": "Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. ",
"keywords": null
},
{
"identifier": "Muckle-Wells syndrome.",
"acronym": "MWS.",
"accession": "DI-00783",
"synonyms": "UDA syndrome.; Urticaria-deafness-amyloidosis syndrome.; ",
"cross_references": "MeSH; D056587.",
"definition": "A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. ",
"keywords": "KW-0209:Deafness.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 8.",
"acronym": "CLN8.",
"accession": "DI-00816",
"synonyms": "Turkish variant late infantile NCL.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis with onset in childhood. 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 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 7.",
"acronym": "CLN7.",
"accession": "DI-00815",
"synonyms": "Turkish variant late infantile NCL.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis with onset in early childhood. 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 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Tumoral calcinosis, normophosphatemic, familial.",
"acronym": "NFTC.",
"accession": "DI-02078",
"synonyms": "Tumoral calcinosis with normophosphatemia.; ",
"cross_references": "MeSH; D002114.",
"definition": "An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation. ",
"keywords": null
},
{
"identifier": "Tuberous sclerosis 2.",
"acronym": "TSC2.",
"accession": "DI-02846",
"synonyms": "TS.; Tuberous sclerosis.; Tuberous sclerosis complex.; ",
"cross_references": "MeSH; D014402.",
"definition": "An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. ",
"keywords": null
},
{
"identifier": "Triphalangeal thumb with polysyndactyly.",
"acronym": "TPTPS.",
"accession": "DI-02391",
"synonyms": "Triphalangeal thumb-polysyndactyly syndrome.; ",
"cross_references": "MedGen; C0241397.",
"definition": "Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development. ",
"keywords": null
},
{
"identifier": "Mitochondrial trifunctional protein deficiency 1.",
"acronym": "MTPD1.",
"accession": "DI-02388",
"synonyms": "Trifunctional protein deficiency.; Trifunctional protein deficiency with myopathy and neuropathy.; ",
"cross_references": "MeSH; D017240.",
"definition": "An autosomal recessive metabolic disorder of long-chain fatty acid oxidation, biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. The disease phenotype ranges from a fatal form characterized by early- onset cardiomyopathy, cardiac failure and early death to less severe, late-onset forms with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy as key features. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 3, photosensitive.",
"acronym": "TTD3.",
"accession": "DI-04434",
"synonyms": "Trichothiodystrophy, complementation group A.; TTDA.; ",
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 8, non-photosensitive.",
"acronym": "TTD8.",
"accession": "DI-06299",
"synonyms": "Trichothiodystrophy 8, nonphotosensitive.; ",
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, a disease characterized by sulfur- deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD8 is an autosomal recessive, non- photosensitive form characterized by brittle hair and nails, scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. ",
"keywords": null
},
{
"identifier": "Tricho-rhino-phalangeal syndrome 3.",
"acronym": "TRPS3.",
"accession": "DI-02386",
"synonyms": "Trichorhinophalangeal syndrome type III.; ",
"cross_references": "MedGen; C1860823.",
"definition": "Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. ",
"keywords": null
},
{
"identifier": "Tricho-rhino-phalangeal syndrome 1.",
"acronym": "TRPS1.",
"accession": "DI-02385",
"synonyms": "Trichorhinophalangeal syndrome type I.; ",
"cross_references": "MedGen; C0432233.",
"definition": "Autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. ",
"keywords": null
},
{
"identifier": "Trehalase deficiency.",
"acronym": "TREHD.",
"accession": "DI-05182",
"synonyms": "Trehalose intolerance.; ",
"cross_references": "MeSH; D030342.",
"definition": "An autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon. ",
"keywords": null
},
{
"identifier": "Treacher Collins syndrome 4.",
"acronym": "TCS4.",
"accession": "DI-05871",
"synonyms": "Treacher-Collins syndrome 4.; ",
"cross_references": "MeSH; D008342.",
"definition": "A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. TCS4 inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Short stature, developmental delay, and congenital heart defects.",
"acronym": "SDDHD.",
"accession": "DI-04769",
"synonyms": "TKT deficiency.; Transketolase deficiency.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 7.",
"acronym": "CHNG7.",
"accession": "DI-05659",
"synonyms": "Thyrotropin-releasing hormone resistance, generalized.; ",
"cross_references": "MeSH; D003409.",
"definition": "A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin- releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Thyrotoxic periodic paralysis 2.",
"acronym": "TTPP2.",
"accession": "DI-02615",
"synonyms": "Thyrotoxic hypokalemic periodic paralysis.; TPP.; ",
"cross_references": "MeSH; D010245.",
"definition": "A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. ",
"keywords": null
},
{
"identifier": "Thyrotoxic periodic paralysis 1.",
"acronym": "TTPP1.",
"accession": "DI-02368",
"synonyms": "Thyrotoxic hypokalemic periodic paralysis.; TPP.; ",
"cross_references": "MeSH; D010245.",
"definition": "A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. ",
"keywords": null
},
{
"identifier": "Thyroid cancer, non-medullary, 5.",
"acronym": "NMTC5.",
"accession": "DI-04531",
"synonyms": "Thyroid cancer, nonmedullary, 5.; ",
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
},
{
"identifier": "Thyroid cancer, non-medullary, 4.",
"acronym": "NMTC4.",
"accession": "DI-04530",
"synonyms": "Thyroid cancer, nonmedullary, 4.; ",
"cross_references": "MeSH; D013964.",
"definition": "A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ",
"keywords": null
}
]
}