Human Disease List
GET /api/human_diseases/?format=api&offset=6140&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6160&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6120&ordering=-identifier", "results": [ { "identifier": "Beta-ureidopropionase deficiency.", "acronym": "UPB1D.", "accession": "DI-01276", "synonyms": null, "cross_references": "MeSH; D011686.", "definition": "An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. ", "keywords": null }, { "identifier": "Beta-thalassemia, dominant, inclusion body type.", "acronym": "B-THALIB.", "accession": "DI-01498", "synonyms": "Beta thalassemia dominant inclusion body type.; Dyserythropoietic anemia congenital Irish or Weatherall type.; ", "cross_references": "MeSH; D017086.", "definition": "An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. ", "keywords": "KW-1055:Congenital dyserythropoietic anemia.; " }, { "identifier": "Beta-thalassemia.", "acronym": "B-THAL.", "accession": "DI-01275", "synonyms": "Beta thalassemia.; Cooley's anemia.; Erythroblastic anemia.; Mediterranean anemia.; Thalassemia major.; Thalassemia minor.; ", "cross_references": "MeSH; D017086.", "definition": "A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. ", "keywords": "KW-0360:Hereditary hemolytic anemia.; " }, { "identifier": "Bestrophinopathy, autosomal recessive.", "acronym": "ARB.", "accession": "DI-00187", "synonyms": "Bestrophinopathy.; Retinopathy Burgess-Black type.; ", "cross_references": "MeSH; D012164.", "definition": "A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. ", "keywords": null }, { "identifier": "Bernard-Soulier syndrome A2, autosomal dominant.", "acronym": "BSSA2.", "accession": "DI-01273", "synonyms": "Autosomal dominant benign Bernard-Soulier syndrome.; Benign mediterranean macrothrombocytopenia.; ", "cross_references": "MeSH; D001606.", "definition": "A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. ", "keywords": null }, { "identifier": "Bernard-Soulier syndrome.", "acronym": "BSS.", "accession": "DI-01274", "synonyms": "BDPLT1.; Bernard-Soulier syndrome type A1.; Bernard-Soulier syndrome type B.; Bernard-Soulier syndrome type C.; Bleeding disorder platelet-type 1.; Giant platelet disease.; GPD.; Platelet glycoprotein Ib deficiency.; Von Willebrand factor receptor deficiency.; ", "cross_references": "MeSH; D001606.", "definition": "A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. ", "keywords": null }, { "identifier": "Bent bone dysplasia syndrome 2.", "acronym": "BBDS2.", "accession": "DI-06527", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function. ", "keywords": null }, { "identifier": "Bent bone dysplasia syndrome 1.", "acronym": "BBDS1.", "accession": "DI-03429", "synonyms": null, "cross_references": "MeSH; D001848.", "definition": "A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. ", "keywords": null }, { "identifier": "Benign essential blepharospasm.", "acronym": "BEB.", "accession": "DI-00180", "synonyms": null, "cross_references": "MeSH; D001764.", "definition": "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ", "keywords": "KW-1023:Dystonia.; " }, { "identifier": "Behr syndrome.", "acronym": "BEHRS.", "accession": "DI-04690", "synonyms": "Infantile hereditary optic atrophy with neurologic abnormalities.; Optic atrophy, infantile hereditary, with neurologic abnormalities.; ", "cross_references": "MeSH; D013035.", "definition": "An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, intellectual disability, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Beckwith-Wiedemann syndrome.", "acronym": "BWS.", "accession": "DI-00179", "synonyms": "EMG syndrome.; Exomphalos-macroglossia-gigantism syndrome.; ", "cross_references": "MeSH; D001506.", "definition": "A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. ", "keywords": null }, { "identifier": "Beck-Fahrner syndrome.", "acronym": "BEFAHRS.", "accession": "DI-05782", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Becker nevus syndrome.", "acronym": "BNS.", "accession": "DI-06747", "synonyms": "Becker nevus, isolated.; Becker nevus, syndromic or isolated, somatic mosaic.; ", "cross_references": "MeSH; D012878.", "definition": "A syndrome characterized by the association of Becker nevi with musculoskeletal abnormalities, unilateral breast hypoplasia, intellectual disability, developmental delay, and cardiomyopathy. Becker nevus is a cutaneous hamartoma that appears in childhood as a unilateral tan patch and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles. Most cases are sporadic. ", "keywords": null }, { "identifier": "Becker muscular dystrophy.", "acronym": "BMD.", "accession": "DI-00178", "synonyms": null, "cross_references": "MeSH; D020388.", "definition": "A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. ", "keywords": null }, { "identifier": "Beaulieu-Boycott-Innes syndrome.", "acronym": "BBIS.", "accession": "DI-03901", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. ", "keywords": null }, { "identifier": "Beare-Stevenson cutis gyrata syndrome.", "acronym": "BSTVS.", "accession": "DI-01270", "synonyms": "Beare-Stevenson syndrome.; Cutis gyrata syndrome of Beare and Stevenson.; ", "cross_references": "MeSH; D012868.", "definition": "An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "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": "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations.", "acronym": "BILU.", "accession": "DI-06278", "synonyms": "BILU syndrome.; Hoffman syndrome.; ", "cross_references": "MeSH; D007153.", "definition": "An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations. ", "keywords": null }, { "identifier": "B-cell expansion with NFKB and T-cell anergy.", "acronym": "BENTA.", "accession": "DI-04476", "synonyms": null, "cross_references": "MeSH; D008218.", "definition": "An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ", "keywords": null }, { "identifier": "Bazex-Dupre-Christol syndrome.", "acronym": "BDCS.", "accession": "DI-06694", "synonyms": "Bazex syndrome.; BZX.; Follicular atrophoderma and basal cell carcinomas.; Follicular atrophoderma and basal cell epitheliomata.; ", "cross_references": "MeSH; D007039.", "definition": "An X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face and extensor surfaces of the elbows or knees, and the development of basocellular neoplasms including basal cell nevi and basal cell carcinomas from the second decade onwards. Other reported features include associated hair shaft abnormalities (pili torti and trichorrhexis nodosa) admixed with hypotrichosis, prominent milia affecting the face, hypohidrosis, pinched nose with hypoplastic nasal alae and prominent columella, atopic diathesis with comedones, keratosis pilaris, joint hypermobility, lingua plicata and hyperpigmentation of the forehead. ", "keywords": "KW-1063:Hypotrichosis.; " } ] }