{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=720&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=680&ordering=synonyms","results":[{"identifier":"BDV syndrome.","acronym":"BDVS.","accession":"DI-06110","synonyms":"Blakemore-Durmaz-Vasileiou syndrome.; IDDHH.; Intellectual developmental disorder and hypogonadotropic hypogonadism.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by obesity, intellectual disability, and hypogonadotropic hypogonadism. Additional variable features include central hypothyroidism, hypotonia, and developmental delay. ","keywords":"KW-0550:Obesity.; KW-0991:Intellectual disability.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Bleeding disorder, platelet-type, 13.","acronym":"BDPLT13.","accession":"DI-03258","synonyms":"Bleeding disorder due to defective platelet thromboxane A2 receptor.; ","cross_references":"MeSH; D006470.","definition":"A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. ","keywords":null},{"identifier":"Bleeding disorder, platelet-type, 24.","acronym":"BDPLT24.","accession":"DI-06077","synonyms":"Bleeding disorder, platelet-type, 24, autosomal dominant.; Glanzmann thrombasthenia-like with macrothrombocytopenia  2.; ","cross_references":"MeSH; D006470.","definition":"An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency. ","keywords":null},{"identifier":"Van den Ende-Gupta syndrome.","acronym":"VDEGS.","accession":"DI-03057","synonyms":"Blepharophimosis arachnodactyly and congenital contractures.; Marden-Walker-like syndrome without psychomotor retardation.; ","cross_references":"MeSH; D054119.","definition":"A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, down-slanting eyes, arachnodactyly, and camptodactyly. Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. Some patients experience respiratory problems due to laryngeal abnormalities. ","keywords":null},{"identifier":"Kaufman oculocerebrofacial syndrome.","acronym":"KOS.","accession":"DI-04406","synonyms":"Blepharophimosis-ptosis-intellectual disability syndrome.; BPIDS.; BPID syndrome.; ","cross_references":"MeSH; D019066.","definition":"A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Fibrosis of extraocular muscles, congenital, 1.","acronym":"CFEOM1.","accession":"DI-00352","synonyms":"Blepharoptosis with absent eye movements.; Congenital ophthalmoplegia.; FEOM1.; ","cross_references":"MeSH; D009886.","definition":"A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. ","keywords":null},{"identifier":"Incontinentia pigmenti.","acronym":"IP.","accession":"DI-00597","synonyms":"Bloch-Sulzberger syndrome.; Familial incontinentia pigmenti male-lethal type.; Familial incontinentia pigmenti type II.; IP2.; ","cross_references":"MeSH; D007184.","definition":"A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. ","keywords":null},{"identifier":"GLUT1 deficiency syndrome 1.","acronym":"GLUT1DS1.","accession":"DI-01209","synonyms":"Blood-brain barrier glucose transport defect.; Encephalopathy due to GLUT1 deficiency.; GLUT1 deficiency.; GLUT-1 deficiency syndrome.; GLUT1 deficiency syndrome autosomal recessive.; ","cross_references":"MeSH; D001927.","definition":"A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Bloom syndrome.","acronym":"BLM.","accession":"DI-00191","synonyms":"BLS.; BS.; MGRISCE1.; Microcephaly, growth restriction, and increased sister chromatid exchange 1.; ","cross_references":"MeSH; D001816.","definition":"An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. ","keywords":"KW-0242:Dwarfism.; "},{"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":"Blue cone monochromacy.","acronym":"BCM.","accession":"DI-02866","synonyms":"Blue cone monochromatism.; CBBM.; Colorblindness blue-mono-cone-monochromatic type.; ","cross_references":"MeSH; D003117.","definition":"A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. ","keywords":null},{"identifier":"Bone marrow failure syndrome 1.","acronym":"BMFS1.","accession":"DI-03471","synonyms":"BMFF.; Familial bone marrow failure.; ","cross_references":"MeSH; D000080983.","definition":"An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional. ","keywords":null},{"identifier":"Ziegler-Huang syndrome.","acronym":"ZHS.","accession":"DI-06757","synonyms":"BMFS8.; Bone marrow failure syndrome 8.; ","cross_references":"MeSH; D000080983.","definition":"A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. ZHS is an autosomal recessive form characterized by growth retardation, testicular hypoplasia, and bone marrow failure with thrombocytopenia and macrocytic anemia appearing in childhood. ","keywords":null},{"identifier":"Branchiooculofacial syndrome.","acronym":"BOFS.","accession":"DI-01294","synonyms":"BOF syndrome.; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging.; Branchio-oculo-facial syndrome.; Hemangiomatous branchial clefts-lip pseudocleft syndrome.; Lip pseudocleft-hemangiomatous branchial cyst syndrome.; ","cross_references":"MeSH; D019280.","definition":"A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. ","keywords":null},{"identifier":"Bohring-Opitz syndrome.","acronym":"BOPS.","accession":"DI-01304","synonyms":"Bohring syndrome.; C-like syndrome.; Opitz trigonocephaly-like syndrome.; ","cross_references":"MeSH; D003398.","definition":"A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Cole-Carpenter syndrome 1.","acronym":"CLCRP1.","accession":"DI-04383","synonyms":"Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features.; ","cross_references":"MeSH; D010013.","definition":"A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant. ","keywords":"KW-0989:Craniosynostosis.; KW-1065:Osteogenesis imperfecta.; "},{"identifier":"Eiken syndrome.","acronym":"EKNS.","accession":"DI-01518","synonyms":"Bone modeling defect of hands and feet.; Eiken skeletal dysplasia.; ","cross_references":"MeSH; D010009.","definition":"An autosomal recessive skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. ","keywords":null},{"identifier":"Dravet syndrome.","acronym":"DRVT.","accession":"DI-01023","synonyms":"Borderline SMEI.; DEE6A.; Developmental and epileptic encephalopathy 6A.; EIEE6.; Epileptic encephalopathy, early infantile, 6.; Severe myoclonic epilepsy in infancy.; SMEB.; SMEB-M.; SMEB-O.; SMEB-SW.; SMEI.; SMEI-borderland.; SMEI-borderland more than one feature.; SMEI-borderland-myoclonic seizures.; SMEI-borderland-spike wave.; ","cross_references":"MeSH; D004831.","definition":"A severe form of epileptic encephalopathy characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. Some patients manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core DRVT. DRVT is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Boerjeson-Forssman-Lehmann syndrome.","acronym":"BFLS.","accession":"DI-00192","synonyms":"BORJ.; Borjeson-Forssman syndrome.; Mental deficiency-epilepsy- endocrine disorders.; ","cross_references":"MeSH; D008607.","definition":"An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Branchiootorenal syndrome 1.","acronym":"BOR1.","accession":"DI-01297","synonyms":"BOR syndrome 1.; Branchiootorenal dysplasia 1.; Branchio-oto-renal dysplasia 1.; Branchio-oto-renal syndrome type 1.; Melnick-Fraser syndrome.; ","cross_references":"MeSH; D019280.","definition":"A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. ","keywords":"KW-0209:Deafness.; "}]}