{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=660&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=620&ordering=identifier","results":[{"identifier":"Bosma arhinia microphthalmia syndrome.","acronym":"BAMS.","accession":"DI-04955","synonyms":"Arhinia, choanal atresia, microphthalmia, and hypogonadotropic  hypogonadism.; Arhinia choanal atresia microphthalmia.; Bosma Henkin Christiansen syndrome.; Congenital absence of nose and anterior nasopharynx.; ","cross_references":"MeSH; D000013.","definition":"An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. ","keywords":"KW-0956:Kallmann syndrome.; KW-1013:Microphthalmia.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Bothnia retinal dystrophy.","acronym":"BRD.","accession":"DI-00193","synonyms":"Vasterbotten dystrophy.; ","cross_references":"MeSH; D058499.","definition":"A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. ","keywords":null},{"identifier":"Boucher-Neuhauser syndrome.","acronym":"BNHS.","accession":"DI-04065","synonyms":"Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.; ","cross_references":"MeSH; D058499.","definition":"An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. ","keywords":"KW-0523:Neurodegeneration.; KW-1016:Hypogonadotropic hypogonadism.; "},{"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},{"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":"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":"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":"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, 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 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 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 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 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 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 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 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-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-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":"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":"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.; "}]}