{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=280&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=240&ordering=synonyms","results":[{"identifier":"Hermansky-Pudlak syndrome 9.","acronym":"HPS9.","accession":"DI-03187","synonyms":"Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ","cross_references":"MeSH; D022861.","definition":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ","keywords":"KW-0363:Hermansky-Pudlak syndrome.; "},{"identifier":"Hermansky-Pudlak syndrome 8.","acronym":"HPS8.","accession":"DI-00564","synonyms":"Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ","cross_references":"MeSH; D022861.","definition":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ","keywords":"KW-0363:Hermansky-Pudlak syndrome.; "},{"identifier":"Hermansky-Pudlak syndrome 3.","acronym":"HPS3.","accession":"DI-00559","synonyms":"Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ","cross_references":"MeSH; D022861.","definition":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ","keywords":"KW-0363:Hermansky-Pudlak syndrome.; "},{"identifier":"Hermansky-Pudlak syndrome 6.","acronym":"HPS6.","accession":"DI-00562","synonyms":"Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ","cross_references":"MeSH; D022861.","definition":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ","keywords":"KW-0363:Hermansky-Pudlak syndrome.; "},{"identifier":"Hermansky-Pudlak syndrome 5.","acronym":"HPS5.","accession":"DI-00561","synonyms":"Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ","cross_references":"MeSH; D022861.","definition":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ","keywords":"KW-0363:Hermansky-Pudlak syndrome.; "},{"identifier":"Hermansky-Pudlak syndrome 1.","acronym":"HPS1.","accession":"DI-00557","synonyms":"Albinism with hemorrhagic diathesis and pigmented reticuloendothelial.; Delta storage pool disease.; ","cross_references":"MeSH; D022861.","definition":"A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ","keywords":"KW-0363:Hermansky-Pudlak syndrome.; "},{"identifier":"Albinism, oculocutaneous, 1B.","acronym":"OCA1B.","accession":"DI-02089","synonyms":"Albinism yellow mutant type.; OCA-IB.; OCA-ITS.; Oculocutaneous albinism type IB.; Oculocutaneous albinism type I temperature-sensitive.; Yellow albinism.; ","cross_references":"MeSH; D016115.","definition":"An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. ","keywords":"KW-0015:Albinism.; "},{"identifier":"Epidermolysis bullosa dystrophica, autosomal dominant.","acronym":"DDEB.","accession":"DI-00451","synonyms":"Albopapuloid dominant dystrophic epidermolysis bullosa.; Autosomal dominant dystrophic epidermolysis bullosa.; EBDCT.; EBDD.; Epidermolysis bullosa dystrophica, Cockayne-Touraine type.; Epidermolysis bullosa dystrophica, Pasini type.; ","cross_references":"MeSH; D016108.","definition":"A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.","acronym":"EEMS.","accession":"DI-00433","synonyms":"Albrectsen-Svendsen syndrome.; EEM syndrome.; Ohdo-Hirayama-Terawaki syndrome.; ","cross_references":"MeSH; D017880.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Pseudohypoparathyroidism 1A.","acronym":"PHP1A.","accession":"DI-02229","synonyms":"Albright hereditary osteodystrophy with multiple hormone resistance.; ","cross_references":"MeSH; D011547.","definition":"A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. ","keywords":null},{"identifier":"Dystonia 11, myoclonic.","acronym":"DYT11.","accession":"DI-00418","synonyms":"Alcohol-responsive dystonia.; Dystonia-11.; Myoclonic dystonia.; Myoclonus-dystonia syndrome.; ","cross_references":"MeSH; D009207.","definition":"A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Glycogen storage disease 12.","acronym":"GSD12.","accession":"DI-01176","synonyms":"ALDOA deficiency.; Aldolase A deficiency.; Glycogen storage disease XII.; GSD XII.; Red cell aldolase deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. ","keywords":"KW-0322:Glycogen storage disease.; KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Corticosterone methyloxidase 1 deficiency.","acronym":"CMO-1 deficiency.","accession":"DI-01434","synonyms":"Aldosterone deficiency due to defect in 18-hydroxylase.; Aldosterone deficiency I.; ","cross_references":"MedGen; CN074214.","definition":"Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal. ","keywords":null},{"identifier":"Wiskott-Aldrich syndrome.","acronym":"WAS.","accession":"DI-01147","synonyms":"Aldrich syndrome.; Eczema-thrombocytopenia-immunodeficiency syndrome.; IMD2.; Immunodeficiency 2.; WAS1.; Wiskott-Aldrich syndrome 1.; ","cross_references":"MeSH; D014923.","definition":"An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. ","keywords":null},{"identifier":"Reticular dysgenesis.","acronym":"RDYS.","accession":"DI-02261","synonyms":"Aleukocytosis.; Congenital aleukia.; De Vaal disease.; Hematopoietic hypoplasia, generalized.; Severe combined immunodeficiency with leukopenia.; ","cross_references":"MeSH; D016511.","definition":"A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immunity, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. Inheritance is autosomal recessive. ","keywords":"KW-0705:SCID.; "},{"identifier":"Alexander disease.","acronym":"ALXDRD.","accession":"DI-00074","synonyms":"Alexander's disease.; ","cross_references":"MeSH; D038261.","definition":"A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Glycogen storage disease 9C.","acronym":"GSD9C.","accession":"DI-00530","synonyms":"ALG.; Autosomal liver glycogenosis.; Glycogen storage disease IXc.; GSD-IXc.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Leukemia, acute lymphoblastic.","acronym":"ALL.","accession":"DI-03076","synonyms":"ALL1.; Childhood acute lymphoblastic leukemia.; Leukemia acute lymphoblastic 1.; Leukemia acute lymphoblastic B-hyperdiploid.; Leukemia acute lymphocytic.; Leukemia acute lymphocytic 1.; Leukemia B-cell acute lymphoblastic.; Leukemia T-cell acute lymphoblastic.; ","cross_references":"MeSH; D054198.","definition":"A subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. ","keywords":null},{"identifier":"Alopecia, neurologic defects, and endocrinopathy syndrome.","acronym":"ANES.","accession":"DI-01178","synonyms":"Alopecia-progressive neurological defect-endocrinopathy.; ANE syndrome.; ","cross_references":"MeSH; D009422.","definition":"Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe intellectual disability, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. ","keywords":"KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "},{"identifier":"Alopecia universalis congenita.","acronym":"ALUNC.","accession":"DI-00078","synonyms":"Alopecia universalis.; Atrichia generalized.; ","cross_references":"MeSH; D000505.","definition":"A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy. ","keywords":"KW-1063:Hypotrichosis.; "}]}