Human Disease List
GET /api/human_diseases/?format=api&offset=6060&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6080&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6040&ordering=-identifier", "results": [ { "identifier": "Brain malformations with or without urinary tract defects.", "acronym": "BRMUTD.", "accession": "DI-04979", "synonyms": null, "cross_references": "MeSH; D007674.", "definition": "A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects. ", "keywords": null }, { "identifier": "Brain abnormalities, neurodegeneration, and dysosteosclerosis.", "acronym": "BANDDOS.", "accession": "DI-05595", "synonyms": null, "cross_references": "MeSH; D019636.", "definition": "An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Braddock-Carey syndrome 2.", "acronym": "BRDCS2.", "accession": "DI-06453", "synonyms": null, "cross_references": "MeSH; D019465.", "definition": "An autosomal recessive disease characterized by microcephaly, congenital thrombocytopenia, and facial dysmorphisms including Pierre- Robin sequence. ", "keywords": null }, { "identifier": "Brachyolmia type 4 with mild epiphyseal and metaphyseal changes.", "acronym": "BCYM4.", "accession": "DI-02331", "synonyms": "SEMD Pakistani type.; Spondylodysplasia and premature pubarche.; Spondylometaepiphyseal dysplasia Pakistani type.; ", "cross_references": "MeSH; D001848.", "definition": "A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Brachyolmia 3.", "acronym": "BCYM3.", "accession": "DI-01292", "synonyms": "Autosomal dominant brachyolmia.; Brachyrachia.; ", "cross_references": "MeSH; D010009.", "definition": "A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Brachydactyly-syndactyly syndrome.", "acronym": "BDSD.", "accession": "DI-01291", "synonyms": null, "cross_references": "MeSH; D059327.", "definition": "A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. ", "keywords": null }, { "identifier": "Brachydactyly-syndactyly-oligodactyly syndrome.", "acronym": "BDSDO.", "accession": "DI-04740", "synonyms": null, "cross_references": "MeSH; D059327.", "definition": "A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes. ", "keywords": null }, { "identifier": "Brachydactyly E2.", "acronym": "BDE2.", "accession": "DI-02711", "synonyms": null, "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. ", "keywords": null }, { "identifier": "Brachydactyly E1.", "acronym": "BDE1.", "accession": "DI-00199", "synonyms": "BDE.; Brachydactyly type E.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals. ", "keywords": null }, { "identifier": "Brachydactyly D.", "acronym": "BDD.", "accession": "DI-00198", "synonyms": "Stub thumb.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes. ", "keywords": null }, { "identifier": "Brachydactyly C.", "acronym": "BDC.", "accession": "DI-00197", "synonyms": "Brachydactyly Haws type.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others. ", "keywords": null }, { "identifier": "Brachydactyly B2.", "acronym": "BDB2.", "accession": "DI-02844", "synonyms": null, "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. ", "keywords": null }, { "identifier": "Brachydactyly B1.", "acronym": "BDB1.", "accession": "DI-00196", "synonyms": "BDB.; Brachydactyly type B.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature. ", "keywords": null }, { "identifier": "Brachydactyly A2.", "acronym": "BDA2.", "accession": "DI-00195", "synonyms": "Brachymesophalangy II.; Mohr-Wriedt type brachydactyly.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. ", "keywords": null }, { "identifier": "Brachydactyly A1, D.", "acronym": "BDA1D.", "accession": "DI-04670", "synonyms": "Brachydactyly, type A1, D.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Brachydactyly A1, C.", "acronym": "BDA1C.", "accession": "DI-03654", "synonyms": "Brachydactyly A1C.; Brachydactyly type A1 C.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype. ", "keywords": null }, { "identifier": "Brachydactyly A1.", "acronym": "BDA1.", "accession": "DI-00194", "synonyms": "Farabee-type brachydactyly.; ", "cross_references": "MeSH; D059327.", "definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Brachycephaly, trichomegaly, and developmental delay.", "acronym": "BTDD.", "accession": "DI-04991", "synonyms": "MacInnes syndrome.; MCINS.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. ", "keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; " }, { "identifier": "Bowen-Conradi syndrome.", "acronym": "BWCNS.", "accession": "DI-02492", "synonyms": "Bowen syndrome Hutterite type.; ", "cross_references": "MeSH; D005317.", "definition": "A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life. ", "keywords": null }, { "identifier": "Boudin-Mortier syndrome.", "acronym": "BOMOS.", "accession": "DI-06231", "synonyms": "Tall stature and long digits with extra epiphyses.; ", "cross_references": "MeSH; D017880.", "definition": "An autosomal recessive disorder characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, some patients show joint hypermobility and dilation of the aortic root. ", "keywords": null } ] }