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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01365 | Leber hereditary optic neuropathy and dystonia | Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is ... | Inherited metabolic disorder | |
| H01366 | Bacterial conjunctivitis | Bacterial conjunctivitis is an infection caused by bacterial pathogens, such as Haemophilus influenza, Streptococcus pneumoniae and Moraxella catarrhalis. Most cases of conjunctivitis in adults are likely ... | Bacterial infectious disease | |
| H01367 | Infantile liver failure | Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01368 |
Cytochrome c oxidase (COX) deficiency Mitochondrial complex IV deficiency (MT-C4D) |
Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01369 | ATP synthase deficiency | ATP synthase deficiency is mitochondrial disease caused by inborn defects in the mitochondrial F1Fo-ATP synthase (respiratory chain complex V). Many patients die within a few months or years. It has been ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01370 | SHORT syndrome | SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy ... | Congenital malformation | |
| H01371 |
Hypercalcemia infantile Idiopathic infantile hypercalcemia |
Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that ... | Inherited metabolic disorder | |
| H01372 | Vitiligo | Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo ... | Skin disease | |
| H01373 | Achromobacter xylosoxidans infection | Achromobacter xylosoxidans, also known as Alcaligenes xylosoxidans, is an environmental opportunistic pathogen that causes nosocomial infections targeting immunocompromised patients suffering from cancer ... | Bacterial infectious disease | |
| H01374 | Helicobacter cinaedi infection | Helicobacter cinaedi (previously called Campylobacter cinaedi) causes cellulitis, bacteremia and diarrhea frequently in immunocompromised patients and occasionally in immunocompetent individuals. In addition ... | Bacterial infectious disease | |
| H01375 | Glucose 6-phosphate dehydrogenase deficiency | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are ... | Inherited metabolic disorder | |
| H01376 | Acrofacial dysostosis | Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager ... | Congenital malformation | |
| H01377 | Mitchell-Riley syndrome | Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of ... | Inherited metabolic disorder | |
| H01378 | Bosch-Boonstra optic atrophy syndrome | Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated ... | Nervous system disease | |
| H01379 | Arcobacter butzleri infection | Arcobacter butzleri is the best characterized of all Arcobacters and an emerging pathogen that causes diarrhea, recurrent abdominal cramps and bacteremia. A. butzleri is isolated often from aqueous environments ... | Bacterial infectious disease | |
| H01380 | Bacterial vaginosis | Bacterial vaginosis (BV) flora is dominated by Gardnerella vaginalis and includes many anaerobic organisms as contrasted with normal lactobacillus-dominated vaginal flora. BV flora is thought to be related ... | Bacterial infectious disease | |
| H01381 |
Antithrombin III deficiency Inherited Antithrombin deficiency |
Inherited Antithrombin (AT) deficiency is an autosomal dominant disorder, that is associated with an increased risk for venous thromboembolism (VTE) and pregnancy loss. AT is a potent inactivator of thrombin ... | Hematologic disease | |
| H01382 |
Polyarteritis nodosa Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 deficiency |
Polyarteritis nodosa, also known as vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS), is a systemic necrotizing vasculitis that affects medium and small muscular ... | Immune system disease | |
| H01383 |
Hyperlipoproteinemia type IIa LDL receptor disorder |
Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type ... | Inherited metabolic disorder | |
| H01384 | Mitochondrial recessive ataxia syndrome | Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01385 | Rienhoff syndrome | Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease ... | Congenital malformation | |
| H01386 | Asparagine synthetase deficiency | Asparagine synthetase deficiency is an autosomal recessive disorder characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive ... | Inherited metabolic disorder | |
| H01387 | Activated PI3K-delta syndrome | Activated PI3K-delta syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells ... | Immune system disease | |
| H01388 | Hyperprolactinemia | Hyperprolactinemia (HPRL) unrelated to pregnancy is a disorder characterized by excess production of prolactin (PRL) and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiological ... | Endocrine and metabolic disease | |
| H01389 |
Alpers syndrome Alpers-Huttenlocher syndrome Diffuse cerebral sclerosis of Schilder Hepatocerebral degeneration of childhood Mitochondrial DNA depletion syndrome 4A |
Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01390 |
Mitochondrial neurogastrointestinal encephalomyopathy MNGIE Syndrome |
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01391 | Familial episodic pain syndrome | Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions ... | Musculoskeletal disease | |
| H01392 | Arthrogryposis, mental retardation, and seizures | Arthrogryposis, mental retardation, and seizures (AMRS) is a neuroskeletal disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated ... | Congenital malformation | |
| H01393 |
Van Maldergem syndrome Cerebro-facio-articular syndrome |
Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity ... | Congenital malformation | |
| H01394 | Cole disease | Cole disease is a rare autosomal-dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over ... | Congenital malformation | |
| H01395 | Autosomal recessive progressive external ophthalmoplegia | Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations ... | Nervous system disease | |
| H01396 | Moyamoya disease | Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory ... | Cardiovascular disease | |
| H01397 |
Tick-borne lymphadenopathy Tick-borne lymphadenitis |
Rickettsia species are arthropod-associated intracellular bacteria and cause diseases in human such as Tick-borne lymphadenopathy, Typhus fever and Spotted fever. Rickettsia slovaca has been isolated from ... | Bacterial infectious disease | |
| H01398 | Primary hyperammonemia (Urea cycle disorders) | Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... | Inherited metabolic disorder | |
| H01399 | Bacillus thuringiensis infection | Bacillus thuringiensis is a close taxonomic relative of Bacillus cereus and an insect pathogen that is widely used as a biopesticide. Additionally, this bacterium is known to induce myonecrosis in immunosuppressed ... | Bacterial infectious disease | |
| H01400 | Secondary hyperammonemia | Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... | Inherited metabolic disorder | |
| H01401 | Methicillin-resistant Staphylococcus epidermidis (MRSE) infection | The genus Staphylococcus known as pathogen of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in ... | Bacterial infectious disease | |
| H01402 | Nicolaides-Baraitser syndrome | Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause ... | Congenital malformation | |
| H01403 | Coffin-Siris syndrome | Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth ... | Congenital malformation | |
| H01404 | Punctate palmoplantar keratoderma | Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified ... | Congenital malformation |
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