HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6500",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6460",
"results": [
{
"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": "Trichothiodystrophy 1, photosensitive.",
"acronym": "TTD1.",
"accession": "DI-01104",
"synonyms": "IBIDS syndrome.; Ichthyosiform erythroderma with hair abnormality and mental and growth retardation.; Ichthyosis, congenital, with trichothiodystrophy.; Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature.; PIBIDS syndrome.; Tay syndrome.; Trichothiodystrophy photosensitive.; Trichothiodystrophy with congenital ichthyosis.; TTDP.; ",
"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. TTD1 patients manifest cutaneous photosensitivity. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Trichothiodystrophy 2, photosensitive.",
"acronym": "TTD2.",
"accession": "DI-04433",
"synonyms": null,
"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 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 4, non-photosensitive.",
"acronym": "TTD4.",
"accession": "DI-01105",
"synonyms": "ABHS.; Amish brittle hair brain syndrome.; BIDS syndrome.; Hair-brain syndrome.; Pollitt syndrome.; Trichorrhexis nodosa syndrome.; Trichothiodystrophy, nonphotosensitive 1.; Trichothiodystrophy-neurocutaneous syndrome.; Trichothiodystrophy non-photosensitive 1.; TTDN1.; ",
"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. TTD4 patients do not manifest cutaneous photosensitivity. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 5, non-photosensitive.",
"acronym": "TTD5.",
"accession": "DI-04442",
"synonyms": null,
"cross_references": "MeSH; D054463.",
"definition": "An X-linked 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. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 6, non-photosensitive.",
"acronym": "TTD6.",
"accession": "DI-04720",
"synonyms": null,
"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. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 7, non-photosensitive.",
"acronym": "TTD7.",
"accession": "DI-05638",
"synonyms": null,
"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. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive. ",
"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": "Trichothiodystrophy 9, non-photosensitive.",
"acronym": "TTD9.",
"accession": "DI-06300",
"synonyms": null,
"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. TTD9 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": "Trichotillomania.",
"acronym": "TTM.",
"accession": "DI-02830",
"synonyms": null,
"cross_references": "MeSH; D014256.",
"definition": "A neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder. ",
"keywords": null
},
{
"identifier": "Trigonocephaly 1.",
"acronym": "TRIGNO1.",
"accession": "DI-02068",
"synonyms": "Metopic craniosynostosis.; ",
"cross_references": "MeSH; D003398.",
"definition": "A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Trigonocephaly 2.",
"acronym": "TRIGNO2.",
"accession": "DI-03386",
"synonyms": "Metopic craniosynostosis.; ",
"cross_references": "MeSH; D003398.",
"definition": "A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Trimethylaminuria.",
"acronym": "TMAU.",
"accession": "DI-02389",
"synonyms": "Fish-odor syndrome.; MeSH; D008661.; ",
"cross_references": "MedGen; C0342739.",
"definition": "Inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino- trimethylamine (TMA) derived from foodstuffs. Affected individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine. ",
"keywords": null
},
{
"identifier": "Triokinase and FMN cyclase deficiency syndrome.",
"acronym": "TKFCD.",
"accession": "DI-05786",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Triosephosphate isomerase deficiency.",
"acronym": "TPID.",
"accession": "DI-02390",
"synonyms": "Hemolytic anemia due to triosephosphate isomerase deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"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": "Tritan color blindness.",
"acronym": "CBT.",
"accession": "DI-02393",
"synonyms": "Blue colorblindness.; Tritanopia.; ",
"cross_references": "MeSH; D003117.",
"definition": "A disorder of vision characterized by a selective deficiency of blue spectral sensitivity. ",
"keywords": null
},
{
"identifier": "Tropical calcific pancreatitis.",
"acronym": "TCP.",
"accession": "DI-02394",
"synonyms": null,
"cross_references": "MedGen; C1842402.",
"definition": "Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer. ",
"keywords": null
},
{
"identifier": "Tuberous sclerosis 1.",
"acronym": "TSC1.",
"accession": "DI-01106",
"synonyms": "Bourneville syndrome.; 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
}
]
}