{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4000&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3960&ordering=-identifier","results":[{"identifier":"Holoprosencephaly 14.","acronym":"HPE14.","accession":"DI-06434","synonyms":null,"cross_references":"MeSH; D016142.","definition":"An autosomal recessive form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. In its most severe form (alobar holoprosencephaly), the forebrain consists of a single ventricle, and midbrain structures may be malformed as well. In the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. In milder forms (semilobar or lobar holoprosencephaly), rudimentary midline structures are present. The less severe form features facial dysmorphism characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum. ","keywords":"KW-0370:Holoprosencephaly.; "},{"identifier":"Holoprosencephaly 13, X-linked.","acronym":"HPE13.","accession":"DI-05801","synonyms":null,"cross_references":"MeSH; D016142.","definition":"An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. ","keywords":"KW-0370:Holoprosencephaly.; "},{"identifier":"Holoprosencephaly 12 with or without pancreatic agenesis.","acronym":"HPE12.","accession":"DI-05615","synonyms":null,"cross_references":"MeSH; D016142.","definition":"An autosomal dominant form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. ","keywords":"KW-0370:Holoprosencephaly.; "},{"identifier":"Holoprosencephaly 11.","acronym":"HPE11.","accession":"DI-03230","synonyms":"Holoprosencephaly-11.; ","cross_references":"MeSH; D016142.","definition":"A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. ","keywords":"KW-0370:Holoprosencephaly.; "},{"identifier":"Holocarboxylase synthetase deficiency.","acronym":"HLCS deficiency.","accession":"DI-00565","synonyms":"Biotin-responsive MCD.; Biotin-responsive multiple carboxylase deficiency.; Early-onset MCD.; Early-onset multiple carboxylase deficiency.; MCD neonatal form.; ","cross_references":"MeSH; D028922.","definition":"A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. ","keywords":null},{"identifier":"Histiocytosis-lymphadenopathy plus syndrome.","acronym":"HLAS.","accession":"DI-01692","synonyms":"Cutaneous hyperpigmentation with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss.; Faisalabad histiocytosis.; Familial Rosai-Dorfman disease.; Histiocytosis and lymphadenopathy with or without cutaneous cardiac and/or endocrine features joint contractures and/or deafness.; Histiocytosis with joint contractures and sensorineural deafness.; HJCD.; H syndrome.; PHID.; Pigmented hypertrichosis with insulin-dependent diabetes mellitus.; SHML.; Sinus histiocytosis and massive lymphadenopathy.; ","cross_references":"MeSH; D015618.","definition":"A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. ","keywords":null},{"identifier":"Histidinemia.","acronym":"HISTID.","accession":"DI-01750","synonyms":null,"cross_references":"MedGen; C0220992.","definition":"Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. ","keywords":null},{"identifier":"Hirschsprung disease, cardiac defects, and autonomic dysfunction.","acronym":"HCAD.","accession":"DI-01748","synonyms":null,"cross_references":"MeSH; D006627.","definition":"A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hirschsprung disease 4.","acronym":"HSCR4.","accession":"DI-02982","synonyms":null,"cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hirschsprung disease 3.","acronym":"HSCR3.","accession":"DI-01745","synonyms":null,"cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hirschsprung disease 2.","acronym":"HSCR2.","accession":"DI-01747","synonyms":"Aganglionic megacolon.; MGC.; ","cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hirschsprung disease 1.","acronym":"HSCR1.","accession":"DI-01746","synonyms":"Aganglionic megacolon.; Colonic aganglionosis.; MGC.; ","cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hijazi-Reis syndrome.","acronym":"HIJRS.","accession":"DI-06575","synonyms":"NEDGFAX.; Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked.; ","cross_references":"MeSH; D065886.","definition":"A neurodevelopmental disorder characterized by hypotonia, abnormal gait, developmental delay, intellectual disability especially affecting expressive language, and autistic behavior. Additional features include facial dysmorphism,ocular anomalies, and gastrointestinal issues. Rare patients have seizures. Disease severity is variable. Males tend to be more severely affected than females. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"High molecular weight kininogen deficiency.","acronym":"HMWK deficiency.","accession":"DI-01744","synonyms":null,"cross_references":"MedGen; C2673572.","definition":"Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface- mediated activation of fibrinolysis. ","keywords":null},{"identifier":"High bone mass trait.","acronym":"HBM.","accession":"DI-01741","synonyms":null,"cross_references":"MedGen; C1866080.","definition":"Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings. ","keywords":null},{"identifier":"Hiatt-Neu-Cooper neurodevelopmental syndrome.","acronym":"HINCONS.","accession":"DI-06098","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Heyn-Sproul-Jackson syndrome.","acronym":"HESJAS.","accession":"DI-05727","synonyms":"Microcephaly, short stature, and impaired intellectual development.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Hexokinase deficiency.","acronym":"HK deficiency.","accession":"DI-01739","synonyms":null,"cross_references":"MedGen; C3150343.","definition":"Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. ","keywords":null},{"identifier":"Heterotaxy, visceral, 9, autosomal, with male infertility.","acronym":"HTX9.","accession":"DI-05875","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 8, autosomal.","acronym":"HTX8.","accession":"DI-04866","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. ","keywords":"KW-1056:Heterotaxy.; "}]}