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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02367 | Chorea, childhood-onset, with psychomotor retardation | Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated ... | Nervous system disease | |
| H02368 | Developmental delay with short stature, dysmorphic facial features, and sparse hair | Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies ... | Congenital malformation | |
| H02369 | IMAGE-I syndrome | IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It ... | Congenital malformation | |
| H02370 | FILS syndrome | FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE ... | Congenital malformation | |
| H02371 | Intellectual developmental disorder with autism and speech delay | Intellectual developmental disorder with autism and speech delay is the autistic-spectrum-disorder. Some of them have complications in addition to autism and speech delay. Several underlying genetic causes ... | Mental and behavioural disorder | |
| H02372 |
Cystoisosporiasis Isosporiasis |
Cystoisosporiasis is a human enteritis caused by Cystoisospora belli. Cystoisospora belli is an obligate intracellular protozoa in phylum Apicomplexa. The transmission is through ingestion of sporulated ... | Parasitic infectious disease | |
| H02373 | Sarcocystosis | Sarcocystosis is an infectious disease caused by species of Sarcocystis, an intracellular protozoan parasite. Sarcocystis was first reported in 1843. Humans can serve as definitive hosts, with intestinal ... | Parasitic infectious disease | |
| H02374 | Blastocystosis | Blastocystosis is an infectious disease caused by Blastocystis sp., an anaerobic intestinal parasite of humans and a wide range of animals. Blastocystis sp. is the only stramenopiles known to cause infection ... | Parasitic infectious disease | |
| H02375 | Cardiac valvular dysplasia | Cardiac valvular dysplasia (CVDP) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDP has been reported | Congenital malformation | |
| H02376 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features ... | Congenital malformation | |
| H02377 | Leukodystrophy and acquired microcephaly with or without dystonia | Leukodystrophy and acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin ... | Nervous system disease | |
| H02378 | Hypotonia, ataxia, and delayed development syndrome | Hypotonia, ataxia, and delayed development syndrome (HADDS) is a complex neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been ... | Congenital malformation | |
| H02379 | Rickettsialpox | Rickettsialpox is an infectious disease caused by Rickettsia akari, an intracellular gram-negative bacterium, and transmitted by the house mouse mite, Liponyssoides sanguineus. It was initially described ... | Bacterial infectious disease | |
| H02380 | D-glyceric aciduria | D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding ... | Inherited metabolic disorder | |
| H02381 | Cleft palate, psychomotor retardation, and distinctive facial features | Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features ... | Congenital malformation | |
| H02382 | Bainbridge-Ropers syndrome | Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. Common emerging features include severe intellectual disability, speech ... | Congenital malformation | |
| H02383 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region ... | Congenital malformation | |
| H02384 |
Abdominal obesity-metabolic syndrome Metabolic syndrome X |
Abdominal obesity-metabolic syndrome (AOMS) is also known as syndrome X or insulin resistance syndrome. Insulin resistance is a key abnormality associated with an atherogenic, prothrombotic, and inflammatory ... | Endocrine and metabolic disease | |
| H02385 | Eumycetoma | Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma [DS:H01451]) or fungi (eumycetoma). It is endemic in tropical and subtropical regions ... | Fungal infectious disease | |
| H02386 | Phaeohyphomycosis | Phaeohyphomycosis is an infectious disease caused by many species of dematiaceous fungi. It is associated with a wide range of inflammatory responses. Over 100 species and 60 genera of dematiaceous fungi ... | Fungal infectious disease | |
| H02387 | Snijders Blok-Fisher syndrome | Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems ... | Mental and behavioural disorder | |
| H02388 | Infantile-onset limb and orofacial dyskinesia | Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the ... | Nervous system disease | |
| H02389 | Familial dyskinesia with facial myokymia | Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause ... | Nervous system disease | |
| H02390 | Autosomal recessive neuromyotonia and axonal neuropathy | Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function ... | Nervous system disease | |
| H02391 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a novel intellectual disability phenotype caused by homozygous mutations in PTRH2. IMNEPD is characterized by intellectual ... | Congenital malformation | |
| H02392 |
Scedosporiosis Pseudoallescheriosis |
Scedosporiosis caused by the genus Scedosporium has emerged as a severe infection in both immunocompromised and immunocompetent individuals with a high incidence, ranging from localized to disseminated ... | Fungal infectious disease | |
| H02393 |
Talaromycosis Penicilliosis |
Talaromycosis (penicilliosis) is a life-threatening mycosis caused by the dimorphic fungus Talaromyces marneffei, which was first isolated from a bamboo rat in Vietnam in 1956. It affects primarily immunocompromised ... | Fungal infectious disease | |
| H02394 | Cleft palate, cardiac defects, and mental retardation | Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has ... | Congenital malformation | |
| H02395 | Calvarial doughnut lesions with bone fragility | Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, increased spinal and peripheral fractures, and sclerotic, ... | Musculoskeletal disease | |
| H02396 | Corpus callosum agenesis with facial anomalies and cerebellar ataxia | Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia ... | Congenital malformation | |
| H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | Congenital malformation | |
| H02398 |
COVID-19 Coronavirus disease 2019 |
Coronavirus disease of 2019 (COVID-19) is a highly contagious respiratory infection that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 infects alveolar epithelial ... | Viral infectious disease | hsa05171 Coronavirus disease - COVID-19 |
| H02399 | Primary amoebic meningoencephalitis (PAM) | Primary amoebic meningoencephalitis (PAM) is a perilous and devastating waterborne disease caused by Naegleria fowleri. N. fowleri is a free-living, thermophilic amoeba distributed worldwide in soil and ... | Parasitic infectious disease | |
| H02400 | Rhinosporidiosis | Rhinosporidiosis is a chronic, granulomatous infection caused by Rhinosporidium seeberi, a protist belonging to the mesomycetozoea family of aquatic parasites, which primarily affects the mucous membranes ... | Parasitic infectious disease | |
| H02401 | Acanthamoebiasis | Acanthamoebiasis is a rare infectious disease caused by free-living amoebae belonging to the genus Acanthamoeba. Acanthamoeba are the causative agents of granulomatous amebic encephalitis (GAE) and amebic ... | Parasitic infectious disease | |
| H02402 |
Thyroid eye disease Graves ophthalmopathy |
Thyroid eye disease (TED), also called Graves ophthalmopathy, is an autoimmune disorder of the retrobulbar tissue. It is the most frequent extrathyroidal manifestation of Graves disease [DS:H00082]. Although ... | Immune system disease | |
| H02403 | Angiostrongyliasis | Angiostrongyliasis is a food-borne parasitic zoonosis caused by nematode worms of the genus Angiostrongylus. Over 20 species of Angiostrongylus are currently recognized. Two species, A. cantonensis and ... | Parasitic infectious disease | |
| H02404 | Capillariasis | Capillariasis is an infectious disease caused by nematode worms of the genus Capillaria. Intestinal capillariasis caused by Capillaria philippinensis appeared first in the Philippines in 1964. Major outbreaks ... | Parasitic infectious disease | |
| H02405 | Oesophagostomiasis | Oesophagostomiasis is an infectious disease normally caused by Oesophagostomum bifurcum. Oesophagostomum bifurcum is highly and focally endemic in northern Ghana and Togo. Oesophagostomum species in man ... | Parasitic infectious disease | |
| H02406 | Syngamosis | Syngamosis is a quite rare infectious disease caused by nematodes of the genus Mammomonogamus. Mammomonogamus laryngeus is the most common agent of human syngamosis. It was first demonstrated in 1899. ... | Parasitic infectious disease |
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