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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2640",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2600",
"results": [
{
"identifier": "Haim-Munk syndrome.",
"acronym": "HMS.",
"accession": "DI-00539",
"synonyms": "Cochin Jewish disorder.; Keratosis palmoplantaris with periodontopathia and onychogryposis.; ",
"cross_references": "MeSH; D007645.",
"definition": "An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Hajdu-Cheney syndrome.",
"acronym": "HJCYS.",
"accession": "DI-02985",
"synonyms": "Acroosteolysis with osteoporosis and changes in skull and mandible.; Arthrodentoosteodysplasia.; Cheney syndrome.; HCS.; Serpentine Fibula-Polycystic Kidney Syndrome.; Serpentine fibula syndrome.; SFPKS.; ",
"cross_references": "MeSH; D031845.",
"definition": "A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. ",
"keywords": "KW-1285:Osteoporosis.; "
},
{
"identifier": "Hallermann-Streiff syndrome.",
"acronym": "HSS.",
"accession": "DI-02798",
"synonyms": "Francois dyscephalic syndrome.; ",
"cross_references": "MeSH; D006210.",
"definition": "A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Intellectual disability is present in a minority of cases. ",
"keywords": null
},
{
"identifier": "Halperin-Birk syndrome.",
"acronym": "HLBKS.",
"accession": "DI-05697",
"synonyms": "NEDSOSB.; Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum. ",
"keywords": null
},
{
"identifier": "Hamamy syndrome.",
"acronym": "HMMS.",
"accession": "DI-03480",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hand-foot-genital syndrome.",
"acronym": "HFG.",
"accession": "DI-01694",
"synonyms": "Hand-foot-uterus syndrome.; HFG syndrome.; HFU.; HFU syndrome.; ",
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. ",
"keywords": null
},
{
"identifier": "Hao-Fountain syndrome.",
"acronym": "HAFOUS.",
"accession": "DI-05866",
"synonyms": "Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, poor or absent speech, and mild facial dysmorphism. Most patients develop seizures. Additional variable features include hypotonia, hypogonadism in males, and ocular anomalies. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Harderoporphyria.",
"acronym": "HARPO.",
"accession": "DI-05848",
"synonyms": null,
"cross_references": "MeSH; D011164.",
"definition": "An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Hardikar syndrome.",
"acronym": "HDKR.",
"accession": "DI-06282",
"synonyms": "Cholestasis with pigmentary retinopathy and cleft palate syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An X-linked dominant, multiple congenital anomaly syndrome characterized by foregut malformations, intestinal malrotation, liver and biliary tract disease, genitourinary abnormalities, facial clefting, and pigmentary retinopathy. Some patients may have congenital cardiac defects or vascular abnormalities, including aortic coarctation and carotid/intracranial aneurysms. Neurodevelopment and cognition is normal. ",
"keywords": null
},
{
"identifier": "Harel-Yoon syndrome.",
"acronym": "HAYOS.",
"accession": "DI-04881",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hartnup disorder.",
"acronym": "HND.",
"accession": "DI-01695",
"synonyms": null,
"cross_references": "MedGen; C0018609.",
"definition": "Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. ",
"keywords": null
},
{
"identifier": "Hartsfield syndrome.",
"acronym": "HRTFDS.",
"accession": "DI-03909",
"synonyms": "Holoprosencephaly, ectrodactyly and bilateral cleft lip/palate.; ",
"cross_references": "MeSH; D016142.",
"definition": "A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound intellectual disability is also present. Multiple other congenital anomalies usually occur. ",
"keywords": "KW-0370:Holoprosencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hatipoglu immunodeficiency syndrome.",
"acronym": "HATIS.",
"accession": "DI-06660",
"synonyms": "IMD111.; Immunodeficiency 111.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in infancy or early childhood, and characterized by failure to thrive, short stature, skin pigmentation abnormalities, pancytopenia, and susceptibility to recurrent infections. ",
"keywords": null
},
{
"identifier": "Hawkinsinuria.",
"acronym": "HWKS.",
"accession": "DI-00540",
"synonyms": "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency.; 4-HPPD deficiency.; 4-hydroxyphenylpyruvic acid dioxygenase deficiency.; ",
"cross_references": "MeSH; D020176.",
"definition": "An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. ",
"keywords": null
},
{
"identifier": "Heart and brain malformation syndrome.",
"acronym": "HBMS.",
"accession": "DI-04734",
"synonyms": "NEDHBM.; Neurodevelopmental disorder with heart and brain malformations.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy- Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism. ",
"keywords": null
},
{
"identifier": "Heart-hand syndrome Slovenian type.",
"acronym": "HHS-Slovenian.",
"accession": "DI-01697",
"synonyms": null,
"cross_references": "MedGen; C1857829.",
"definition": "Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. ",
"keywords": null
},
{
"identifier": "Heimler syndrome 1.",
"acronym": "HMLR1.",
"accession": "DI-04563",
"synonyms": "Deafness enamel hypoplasia nail defects.; Hearing loss, sensorineural, with enamel hypoplasia and nail defects.; PBD1C.; Peroxisome biogenesis disorder 1C.; Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities.; ",
"cross_references": "MeSH; D009260.",
"definition": "A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. ",
"keywords": "KW-0209:Deafness.; KW-0958:Peroxisome biogenesis disorder.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Heimler syndrome 2.",
"acronym": "HMLR2.",
"accession": "DI-04564",
"synonyms": "PBD4C.; Peroxisome biogenesis disorder 4C.; ",
"cross_references": "MeSH; D009260.",
"definition": "A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. ",
"keywords": "KW-0209:Deafness.; KW-0958:Peroxisome biogenesis disorder.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Heinz body anemias.",
"acronym": "HEIBAN.",
"accession": "DI-01698",
"synonyms": null,
"cross_references": "MedGen; C0700299.",
"definition": "Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. ",
"keywords": null
},
{
"identifier": "HELIX syndrome.",
"acronym": "HELIX.",
"accession": "DI-05081",
"synonyms": "Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. ",
"keywords": "KW-0977:Ichthyosis.; "
}
]
}