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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02888 | Neurodevelopmental disorder with or without seizures and gait abnormalities | Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by intellectual disability, problems of social behavior, and other variable ... | Congenital malformation | |
| H02889 | X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features | X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features (EPILX2) is a neurologic disorder with a range of epileptic seizure types, a varying degree of intellectual ... | Congenital malformation | |
| H02890 | Neurodevelopmental disorder with language delay and variable cognitive abnormalities | Neurodevelopmental disorder with language delay and variable cognitive abnormalities (NEDLC) is a rare autosomal dominant disorder of neurodevelopmental delay and epilepsy with neurodevelopmental motor ... | Congenital malformation | |
| H02891 | Neurodevelopmental disorder with poor language and loss of hand skills | Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) is an autosomal dominant disorder characterized by a cascade of intellectual, motor, and social disabilities, presenting ... | Congenital malformation | |
| H02892 | Neurodevelopmental disorder with infantile epileptic spasms | Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by variable degrees of developmental delay, intellectual disability, and seizures. Mutations in the NCDN gene, encoding ... | Congenital malformation | |
| H02893 | Euthyroid hyperthyroxinemia | Euthyroid hyperthyroxinemia is mostly due to thyroid hormone-binding protein disorders that cause elevated total T4 and normal TSH concentrations in the absence of hyperthyroidism. Family dysalbuminemic ... | Endocrine and metabolic disease | |
| H02894 | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is a suite of neurodevelopmental abnormalities displaying ataxia, motor and speech delay, and intellectual ... | Congenital malformation | |
| H02895 |
Lodder-Merla syndrome Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
Lodder-Merla syndrome is an autosomal recessive multisystem disorder caused by mutations in GNB5, which encodes the G protein beta subunit 5. Recent studies have linked GNB5 mutations to a spectrum of ... | Cardiovascular disease; Nervous system disease | |
| H02896 | Cutaneous mastocytosis | Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (MASTC), mast cells infiltration is ... | Neoplasm | |
| H02897 | Familial persistent stuttering | Stuttering (STUTS) is a common neurodevelopmental speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. Stuttering has been shown to be highly heritable ... | Mental and behavioural disorder | |
| H02898 | Behr syndrome | Behr syndrome (BEHRS) is an autosomal recessive syndrome characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral ... | Nervous system disease | |
| H02899 | Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome | Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome, also known as MORM syndrome (MORMS), is a novel autosomal recessive disorder with a condition related to ... | Congenital malformation | |
| H02900 | Kahrizi syndrome | Kahrizi syndrome is a novel autosomal recessive syndrome characterized by severe mental retardation, coloboma, cataract, and kyphosis. It has been reported that mutations in SRD5A3 cause this syndrome ... | Inherited metabolic disorder | |
| H02901 | GAPO syndrome | GAPO syndrome is a rare syndrome characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy. It has been reported that mutations in ANTXR1 cause this syndrome. ANTXR1, anthrax toxin ... | Congenital malformation | |
| H02902 | Chondrosarcoma | Chondrosarcomas constitute a heterogeneous group of primary bone cancers characterized by hyaline cartilaginous neoplastic tissue. Mutations in EXT1 have been identified in individuals with chondrosarcoma ... | Cancer | |
| H02903 | CHAND syndrome | CHAND syndrome is a rare autosomal recessive ectodermal dysplasia characterized by the triad of ankyloblepharon, sparse and curly hair, and hypoplastic nails. It has been reported that mutations in RIPK4 ... | Congenital malformation | |
| H02904 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by early-onset gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, and hypogammaglobulinemia ... | Primary immunodeficiency | |
| H02905 | Santos syndrome | Santos syndrome is a novel syndrome characterized by fibular agenesis/hypoplasia, clubfeet with severe oligodactyly, and ungual hypoplasia/anonychia. It has been reported that mutations in WNT7A cause ... | Congenital malformation | |
| H02906 | Polycystic lung disease | Polycystic lung disease (PCLUD) is characterized by multiple intrapulmonary cysts. A lung cyst is an air-filled lucent structure surrounded by a thin wall. It has been reported that inherited CCR2 deficiency ... | Respiratory system disease | |
| H02907 |
Elevated adenosine triphosphate of erythrocytes Pyruvate kinase hyperactivity |
Elevated adenosine triphosphate of erythrocytes is an autosomal dominant abnormality of human erythrocyte. It was found that affected individuals had elevated red cell pyruvate kinase activity and mild ... | Hematologic disease | |
| H02908 | Mitchell syndrome | Mitchell syndrome (MITCH) is a rare and progressive autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. It has been reported that ... | Nervous system disease | |
| H02909 | Hyperostosis cranialis interna | Hyperostosis cranialis interna (HCIN) is a rare autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. It has been reported that ... | Musculoskeletal disease | |
| H02910 | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is a rare autosomal recessive syndrome affecting kidneys, eyes, and ears. It has been reported that mutations in ... | Congenital malformation | |
| H02911 | Paul-Chao neurodevelopmental syndrome | Paul-Chao neurodevelopmental syndrome (NEDPACH) is a rare syndrome characterized by developmental delay, intellectual disability, hypotonia, autism, and epilepsy. It has been reported that mutations in ... | Congenital malformation | |
| H02912 | Achalasia-progeroid syndrome | Achalasia-progeroid syndrome (ACHPS) is a progressive disorder characterized by a typical facial appearance, achalasia, progressive hearing loss, and generalized lipodystrophy. It has been reported that ... | Congenital malformation | |
| H02913 | Rahman syndrome | Rahman syndrome (RMNS) is a recently described congenital anomaly syndrome characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral ... | Congenital malformation | |
| H02914 | Retinal dystrophy with or without macular staphyloma | Retinal dystrophy with or without macular staphyloma (RDMS) is an autosomal recessive early-onset retinal dystrophy. It has been reported that mutations in CFAP410 cause this disease. CFAP410 encodes a ... | Nervous system disease | |
| H02915 | Huriez syndrome | Huriez syndrome (HRZ) is a rare autosomal dominant genodermatosis characterized by congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous ... | Congenital malformation | |
| H02916 | Fischer-Zirnsak progeroid syndrome | Fischer-Zirnsak progeroid syndrome (FZPS) is a novel developmental disorder characterized by intrauterine growth retardation, generalized lipodystrophy, and additional progeroid features. It has been reported ... | Congenital malformation | |
| H02917 | Wiedemann-Rautenstrauch syndrome | Wiedemann-Rautenstrauch syndrome (WDRTS), also known as neonatal progeroid syndrome, is a rare autosomal recessive condition characterized by growth retardation, sparse scalp hair, generalised lipodystrophy ... | Congenital malformation | |
| H02918 | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is a novel brain and heart developmental syndrome characterized by dysmorphic features, intellectual disability ... | Congenital malformation | |
| H02919 |
Bachmann-Bupp syndrome Neurodevelopmental disorder with alopecia and brain abnormalities |
Bachmann-Bupp syndrome (BABS), also known as neurodevelopmental disorder with alopecia and brain abnormalities (NEDABA) is a neurometabolic disorder associated with global developmental delay, ectodermal ... | Inherited metabolic disorder | |
| H02920 | Keratolytic winter erythema | Keratolytic winter erythema (KWE) is a rare autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. It has been reported that KWE is caused ... | Congenital malformation | |
| H02921 | Seborrheic keratosis | Seborrheic keratosis is one of the most common benign epidermal tumors that associates with increased age. The lesions manifest clinically as acquired, well-demarcated brownish papules or plaques with ... | Neoplasm | |
| H02922 | Pleomorphic salivary gland adenoma | Pleomorphic salivary gland adenoma (PSA) is the most common salivary gland neoplasm. Fusions involving PLAG1 locus were first discovered in pleomorphic adenoma in 1997. PLAG1 gene rearrangement is the ... | Neoplasm | |
| H02923 | Keratoendotheliitis fugax hereditaria | Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central ... | Nervous system disease | |
| H02924 | Intellectual disability and myopathy syndrome | Intellectual disability and myopathy syndrome (IDMYS) is a novel syndrome characterized by mild intellectual disability, a characteristic face, myopathy, and cerebral white matter hyperintensity. It has ... | Congenital malformation | |
| H02925 | Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy | Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy (CONDRHN) is a novel autosomal recessive neurodegenerative disease ... | Nervous system disease | |
| H02926 | Elsahy-Waters syndrome | Elsahy-Waters syndrome (ESWS) is a rare dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual ... | Congenital malformation | |
| H02927 | DEEAH syndrome | DEEAH syndrome is a novel multisystem disorder characterized by developmental delay, exocrine and endocrine insufficiency, autonomic dysfunction, and haematological anomalies. It has been reported that ... | Congenital malformation |
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