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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1880&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1840&ordering=synonyms",
"results": [
{
"identifier": "3MC syndrome 3.",
"acronym": "3MC3.",
"accession": "DI-04982",
"synonyms": "Facial clefting syndrome Gypsy type.; Malpuech facial clefting syndrome.; Malpuech syndrome.; ",
"cross_references": "MeSH; D005141.",
"definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ",
"keywords": null
},
{
"identifier": "Alazami syndrome.",
"acronym": "ALAZS.",
"accession": "DI-03653",
"synonyms": "Facial dysmorphism intellectual disability and primordial dwarfism.; ",
"cross_references": "MeSH; D008607.",
"definition": "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Craniofacial microsomia 1.",
"acronym": "CFM1.",
"accession": "DI-06354",
"synonyms": "Facioauriculovertebral sequence.; Facio-auriculo-vertebral spectrum.; FAV sequence.; Goldenhar syndrome.; Hemifacial microsomia.; HFM.; OAV dysplasia.; OAVS.; Oculoauricular vertebral dysplasia.; Oculoauriculovertebral spectrum.; Oculo-auriculo-vertebral spectrum.; ",
"cross_references": "MeSH; D006053.",
"definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. CFM1 is an autosomal dominant form characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities. ",
"keywords": null
},
{
"identifier": "Uruguay faciocardiomusculoskeletal syndrome.",
"acronym": "FCMSU.",
"accession": "DI-05127",
"synonyms": "Faciocardiomusculoskeletal syndrome, Uruguay type.; FCMS.; ",
"cross_references": "MeSH; D009202.",
"definition": "An X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. ",
"keywords": null
},
{
"identifier": "Costello syndrome.",
"acronym": "CSTLO.",
"accession": "DI-01437",
"synonyms": "Faciocutaneoskeletal syndrome.; FCSS.; FCS syndrome.; ",
"cross_references": "MeSH; D056685.",
"definition": "A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. ",
"keywords": null
},
{
"identifier": "Aarskog-Scott syndrome.",
"acronym": "AAS.",
"accession": "DI-00012",
"synonyms": "Faciodigitogenital syndrome.; Faciogenital dysplasia.; Faciogenital dysplasia with attention deficit-hyperactivity disorder.; ",
"cross_references": "MeSH; D001289.",
"definition": "An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest intellectual disability, attention deficit disorder and hyperactivity. ",
"keywords": null
},
{
"identifier": "Oculopharyngodistal myopathy 1.",
"acronym": "OPDM1.",
"accession": "DI-05685",
"synonyms": "Faciooculolaryngopharyngeal myopathy with distal and respiratory involvement.; FOLP-DR.; Oculopharyngodistal myopathy.; OPDM.; ",
"cross_references": "MeSH; D039141.",
"definition": "A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Facioscapulohumeral muscular dystrophy 1.",
"acronym": "FSHD1.",
"accession": "DI-01545",
"synonyms": "Facioscapulohumeral muscular dystrophy.; Facioscapulohumeral muscular dystrophy type 1A.; FMD.; FSHD.; FSHD1A.; Landouzy-Dejerine muscular dystrophy.; ",
"cross_references": "MeSH; D020391.",
"definition": "A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. ",
"keywords": null
},
{
"identifier": "Factor V deficiency.",
"acronym": "FA5D.",
"accession": "DI-00486",
"synonyms": "Factor 5 deficiency.; Owren disease.; Owren parahemophilia.; Parahemophilia.; Quebec platelet disorder.; ",
"cross_references": "MeSH; D005166.",
"definition": "A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia. ",
"keywords": null
},
{
"identifier": "Complement factor B deficiency.",
"acronym": "CFBD.",
"accession": "DI-04018",
"synonyms": "Factor B deficiency.; ",
"cross_references": "MeSH; D007154.",
"definition": "An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. ",
"keywords": null
},
{
"identifier": "Complement factor D deficiency.",
"acronym": "CFDD.",
"accession": "DI-01376",
"synonyms": "Factor D deficiency.; ",
"cross_references": "MeSH; D007154.",
"definition": "An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. ",
"keywords": null
},
{
"identifier": "Fanconi anemia complementation group D1.",
"acronym": "FANCD1.",
"accession": "DI-01601",
"synonyms": "FAD1.; ",
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Friedreich ataxia.",
"acronym": "FRDA.",
"accession": "DI-01630",
"synonyms": "FA.; FRDA1.; Friedreich ataxia 1.; Friedreich ataxia with retained reflexes.; ",
"cross_references": "MeSH; D005621.",
"definition": "Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. ",
"keywords": null
},
{
"identifier": "Tyrosinemia 1.",
"acronym": "TYRSN1.",
"accession": "DI-01107",
"synonyms": "FAH deficiency.; Fumarylacetoacetase deficiency.; Hepatorenal tyrosinemia.; Tyrosinemia type I.; ",
"cross_references": "MeSH; D020176.",
"definition": "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. ",
"keywords": null
},
{
"identifier": "Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration.",
"acronym": "SPG35.",
"accession": "DI-02936",
"synonyms": "FAHN.; Fatty acid hydroxylase-associated neurodegeneration.; Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia.; Spastic paraplegia 35, autosomal recessive.; ",
"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. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; KW-1026:Leukodystrophy.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 1.",
"acronym": "ALS1.",
"accession": "DI-00108",
"synonyms": "FALS.; Familial amyotrophic lateral sclerosis.; Lou Gehrig disease.; ",
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Hypocalciuric hypercalcemia, familial 1.",
"acronym": "HHC1.",
"accession": "DI-01588",
"synonyms": "Familial benign hypercalcemia 1.; Familial benign hypocalciuric hypercalcemia 1.; FBH1.; FBHH1.; FHH.; FHH1.; HHC.; Hypocalciuric hypercalcemia type I.; ",
"cross_references": "MeSH; D006934.",
"definition": "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. ",
"keywords": null
},
{
"identifier": "Hypocalciuric hypercalcemia, familial 3.",
"acronym": "HHC3.",
"accession": "DI-03662",
"synonyms": "Familial benign hypercalcemia 3.; Familial benign hypercalcemia Oklahoma type.; Familial benign hypocalciuric hypercalcemia 3.; FBH3.; FBHH3.; FHH3.; Hypocalciuric hypercalcemia type III.; ",
"cross_references": "MeSH; D006934.",
"definition": "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. ",
"keywords": null
},
{
"identifier": "Hypocalciuric hypercalcemia, familial 2.",
"acronym": "HHC2.",
"accession": "DI-03852",
"synonyms": "Familial benign hypercalcemia type II.; FBH2.; ",
"cross_references": "MeSH; D006934.",
"definition": "A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. ",
"keywords": null
},
{
"identifier": "Hyperlipidemia, familial combined, 3.",
"acronym": "FCHL3.",
"accession": "DI-05232",
"synonyms": "Familial combined hyperlipidemia.; ",
"cross_references": "MeSH; D006950.",
"definition": "A disorder characterized by a variable pattern of elevated levels of serum total cholesterol, triglycerides or both. It is observed in a percentage of individuals with premature coronary heart disease. FCHL3 inheritance is autosomal dominant. ",
"keywords": null
}
]
}