Human Disease List
GET /api/human_diseases/?format=api&offset=4620&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4640&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4600&ordering=-identifier", "results": [ { "identifier": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive.", "acronym": "EDMD3.", "accession": "DI-03418", "synonyms": "Emery-Dreifuss muscular dystrophy atypical autosomal recessive.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-1067:Emery-Dreifuss muscular dystrophy.; " }, { "identifier": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant.", "acronym": "EDMD2.", "accession": "DI-01520", "synonyms": "Autosomal dominant Emery-Dreifuss muscular dystrophy.; Cardiomyopathy, dilated, with quadriceps myopathy.; EMD2.; Hauptmann-Thannhauser muscular dystrophy.; LGMD1B.; Limb-girdle muscular dystrophy 1B.; Muscular dystrophy, limb-girdle, type 1B.; Muscular dystrophy, proximal, type 1B.; Muscular dystrophy with early contractures and cardiomyopathy autosomal dominant.; Scapuloilioperoneal atrophy with cardiopathy.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-0122:Cardiomyopathy.; KW-0947:Limb-girdle muscular dystrophy.; KW-1067:Emery-Dreifuss muscular dystrophy.; " }, { "identifier": "Emery-Dreifuss muscular dystrophy 1, X-linked.", "acronym": "EDMD1.", "accession": "DI-02444", "synonyms": "EMD1.; Humeroperoneal neuromuscular disease.; Muscular dystrophy tardive Dreifuss-Emery type with contractures.; Scapuloperoneal syndrome X-linked.; X-EDMD.; X-linked Emery-Dreifuss muscular dystrophy.; ", "cross_references": "MeSH; D020389.", "definition": "A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. ", "keywords": "KW-1067:Emery-Dreifuss muscular dystrophy.; " }, { "identifier": "Elsahy-Waters syndrome.", "acronym": "ESWS.", "accession": "DI-05231", "synonyms": "Brachioskeletogenital syndrome.; BSG syndrome.; Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive syndrome characterized by moderate intellectual disability, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, hypertelorism, telechantus, broad nose, concave nasal ridge, underdeveloped mid-face, prognathism, and radicular dentin dysplasia. ", "keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; " }, { "identifier": "Ellis-van Creveld syndrome.", "acronym": "EVC.", "accession": "DI-00449", "synonyms": "Chondroectodermal dysplasia.; Mesoectodermal dysplasia.; ", "cross_references": "MeSH; D004613.", "definition": "An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. ", "keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; " }, { "identifier": "Elliptocytosis 3.", "acronym": "EL3.", "accession": "DI-00447", "synonyms": "Elliptocytosis Rhesus-unlinked type.; Ovalocytosis.; ", "cross_references": "MeSH; D004612.", "definition": "A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive. ", "keywords": "KW-0250:Elliptocytosis.; " }, { "identifier": "Elliptocytosis 2.", "acronym": "EL2.", "accession": "DI-00446", "synonyms": "Elliptocytosis Rhesus-unlinked type.; Ovalocytosis.; ", "cross_references": "MeSH; D004612.", "definition": "A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. ", "keywords": "KW-0250:Elliptocytosis.; " }, { "identifier": "Elliptocytosis 1.", "acronym": "EL1.", "accession": "DI-00445", "synonyms": "Elliptocytosis Rhesus-linked type.; Ovalocytosis.; ", "cross_references": "MeSH; D004612.", "definition": "A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. ", "keywords": "KW-0250:Elliptocytosis.; " }, { "identifier": "El Hayek-Chahrour neurodevelopmental syndrome.", "acronym": "NEDEHC.", "accession": "DI-06902", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by lack of speech, intellectual disability, autism, and developmental delay. ", "keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; " }, { "identifier": "Elejalde syndrome.", "acronym": "ELEJAS.", "accession": "DI-01519", "synonyms": "Elejalde disease.; Neuroectodermal melanolysosomal disease.; ", "cross_references": "MeSH; D020752.", "definition": "Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. ", "keywords": null }, { "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": "Ehlers-Danlos syndrome, vascular type.", "acronym": "EDSVASC.", "accession": "DI-00439", "synonyms": "EDS4.; EDS IV.; Ehlers-Danlos syndrome, type IV, autosomal dominant.; Ehlers-Danlos syndrome 4.; Ehlers-Danlos syndrome arterial type.; Ehlers-Danlos syndrome ecchymotic type.; Sack-Barabas syndrome.; ", "cross_references": "MeSH; D004535.", "definition": "A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, spondylodysplastic type, 3.", "acronym": "EDSSPD3.", "accession": "DI-01517", "synonyms": "Ehlers-Danlos syndrome-like spondylocheirodysplasia.; SCD-EDS.; ", "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition to classic features of Ehlers-Danlos syndrome. Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Radiologic features include mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints). ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, spondylodysplastic type, 2.", "acronym": "EDSSPD2.", "accession": "DI-03844", "synonyms": "EDSP2.; Ehlers-Danlos syndrome, progeroid type, 2.; ", "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, spondylodysplastic type, 1.", "acronym": "EDSSPD1.", "accession": "DI-00435", "synonyms": "Defective biosynthesis of PDS.; Defective biosynthesis of proteodermatan sulfate.; EDSP1.; EDSSLA.; Ehlers-Danlos syndrome, progeroid type, 1.; Ehlers-Danlos syndrome with short stature and limb anomalies.; Galactosyltransferase I deficiency.; XGPT deficiency.; Xylosylprotein 4-beta-galactosyltransferase deficiency.; ", "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. ", "keywords": "KW-0242:Dwarfism.; KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, periodontal type, 2.", "acronym": "EDSPD2.", "accession": "DI-04849", "synonyms": null, "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, periodontal type, 1.", "acronym": "EDSPD1.", "accession": "DI-04848", "synonyms": "EDS8.; EDS VIII.; Ehlers-Danlos syndrome, periodontitis type.; Ehlers-Danlos syndrome, periodontosis type.; Ehlers-Danlos syndrome, type VIII.; ", "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, musculocontractural type 2.", "acronym": "EDSMC2.", "accession": "DI-03960", "synonyms": null, "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, musculocontractural type 1.", "acronym": "EDSMC1.", "accession": "DI-02810", "synonyms": "Adducted thumb-clubfoot syndrome.; Adducted thumbs-arthrogryposis Dundar type.; Arthrogryposis distal with peculiar facies and hydronephrosis.; ATCS.; Dundar syndrome.; EDS6B formerly.; EDSMC.; Ehlers-Danlos syndrome type VIB formerly.; ", "cross_references": "MeSH; D004535.", "definition": "A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. ", "keywords": "KW-0248:Ehlers-Danlos syndrome.; " }, { "identifier": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2.", "acronym": "EDSKSCL2.", "accession": "DI-03408", "synonyms": "EDSKMH.; Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss.; ", "cross_references": "MeSH; D034381.", "definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. ", "keywords": "KW-0209:Deafness.; KW-0248:Ehlers-Danlos syndrome.; " } ] }