Search Result |
Top |
| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01847 |
Thrombocytopenia-absent radius syndrome TAR syndrome |
Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation ... | Congenital malformation | |
| H01848 | Acquired idiopathic generalized anhidrosis | Acquired idiopathic generalized anhidrosis (AIGA) is a rare condition, characterized by generalized absence of sweating without other autonomic and neurologic dysfunction. Most of the cases reported are ... | Skin disease | |
| H01849 | Peripheral arteriovenous malformation | Arteriovenous malformation (AVM) is a congenital vascular malformation with direct communication from arteries to veins (arteriovenous shunting) and lack of a normal capillary network. The behavior of ... | Congenital malformation | |
| H01850 |
Hartsfield syndrome Holoprosencephaly, ectrodactyly, and cleft/lip palate |
Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. HPE and ectrodactyly can occur ... | Congenital malformation | |
| H01851 | Congenital scoliosis associated with rib anomalies | Congenital scoliosis is a lateral curvature of the spine that is due to the presence of vertebral anomalies causing an imbalance in the longitudinal growth of the spine. Most congenital scoliosis is often ... | Congenital malformation | |
| H01852 | Postaxial polydactyly | Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on ... | Congenital malformation | |
| H01853 | Chronic nonspecific multiple ulcers of the small intestine | Chronic nonspecific multiple ulcers of the small intestine (CNSU) are characterized by multiple thin ulcers and concentric stenosis. CNSU predominantly occurs in females and the symptoms, such as general ... | Digestive system disease | |
| H01854 | Metacarpal 4-5 fusion | Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ... | Congenital malformation | |
| H01855 | Biliary atresia | Biliary atresia (BA) is a congenital, fibro-obliterative obstructive cholangiopathy. It can be a devastating disease in infants invariably leading, if untreated, to cirrhosis, liver failure and death. ... | Congenital malformation | |
| H01856 |
Cloacal exstrophy Vesicointestinal fissure |
Cloacal exstrophy is an extremely rare congenital complex deformity that is associated with anterior abdominal wall defects, reflex and exposure of the cloaca (uninterrupted ureter and bowel), aproctia ... | Congenital malformation | |
| H01857 |
Filippi syndrome Syndactyly type 1 with microcephaly and intellectual disability |
Filippi syndrome is a rare autosomal-recessive disorder characterized by mild to severe mental retardation, syndactyly of the fingers and toes, microcephaly, pre and postnatal growth retardation, and unusual ... | Congenital malformation | |
| H01858 | Persistent cloaca | Persistent cloaca is an uncommon congenital anomaly in which there is a single perineal opening for the urinary, gastrointestinal, and reproductive tracts. It is the most severe form of anorectal malformation ... | Congenital malformation | |
| H01859 | Occipital horn syndrome | Occipital horn syndrome (OHS), formerly known as Ehlers-Danlos syndrome type IX or X-linked cutis laxa, is a mildest form of Menkes disease (MD). MD and OHS are X-linked recessive disorders of impaired ... | Congenital malformation | |
| H01860 | Abnormal pituitary gonadotropin secretion | There are two pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Their general biological roles are the stimulation of testicular and ovarian functions via the regulation ... | Endocrine and metabolic disease | |
| H01861 |
Chromosome 15q24 microdeletion syndrome Witteveen-Kolk syndrome |
Chromosome 15q24 microdeletion syndrome is a rare microdeletion syndrome characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior ... | Chromosomal abnormality | |
| H01862 | Hypoparathyroidism | Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia resulting from insufficient or defective parathyroid hormone (PTH) action. PTH is a key calcium regulating hormone essential for ... | Endocrine and metabolic disease | |
| H01863 |
Atopic myelitis Eosinophilic myelitis |
Atopic myelitis, also described as idiopathic eosinophilic myelitis, is a rare disease that consists of localised and persistent inflammation of the spinal cord. It has been reported predominantly in Japan ... | Immune system disease | |
| H01864 | Excessive secretion of growth hormone | Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism ... | Endocrine and metabolic disease | |
| H01865 | Multicentric carpotarsal osteolysis syndrome | Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal ... | Musculoskeletal disease | |
| H01866 |
Pulmonary veno-occlusive disease Pulmonary capillary hemangiomatosis |
Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically ... | Cardiovascular disease | |
| H01867 | Congenital anomalies of kidney and urinary tract | Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent ... | Congenital malformation | |
| H01868 | Mitral valve prolapse | Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral ... | Cardiovascular disease | |
| H01869 | Megacystis microcolon intestinal hypoperistalsis syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset ... | Congenital malformation | |
| H01870 | Microhydranencephaly | Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without ... | Congenital malformation | |
| H01871 | Isolated hypoganglionosis | Isolated hypoganglionosis (IHG) is an innervation disorder that provides diagnostic and management challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung ... | Digestive system disease | |
| H01872 | Microcephaly-capillary malformation syndrome | Microcephaly-capillary malformation (MIC-CAP) syndrome is an autosomal recessive congenital neurocutaneous disorder characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy ... | Congenital malformation | |
| H01873 |
Obliterative bronchiolitis Bronchiolitis obliterans |
Obliterative bronchiolitis (OB), also known as bronchiolitis obliterans, is a rare but serious condition resulting in progressive and irreversible airway obstruction. This disease is the result of injury ... | Respiratory system disease | |
| H01874 | Cronkhite-Canada syndrome | Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, and diarrhea. CCS is reported worldwide ... | Digestive system disease | |
| H01875 | Infantile hepatic hemangioma | Infantile hepatic hemangioma (IHH), although rare, is the most common benign hepatic vascular tumor in the first year of age. They are sub-classified in focal, multiple and diffuse lesions, based on degree ... | Neoplasm | |
| H01876 |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome Chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome |
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems ... | Congenital malformation | |
| H01877 | Chromosome 15q13.3 microdeletion syndrome | Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and ... | Chromosomal abnormality | |
| H01878 | Al-Raqad syndrome | Al-Raqad syndrome (ARS) is a novel clinical entity, and is an autosomal recessive disorder with anomalies in multiple organs. Its most salient phenotypes comprise severe growth delay, neurological defects ... | Congenital malformation | |
| H01879 | Wiedemann-Steiner syndrome | Wiedemann-Steiner Syndrome (WDSTS) is a rare autosomal dominant disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral ... | Congenital malformation | |
| H01880 | Autosomal recessive microcephaly and chorioretinopathy | Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism ... | Congenital malformation | |
| H01881 | Complex cortical dysplasia with other brain malformations | Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with ... | Congenital malformation | |
| H01882 | Asperger syndrome | Asperger syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality ... | Mental and behavioural disorder | |
| H01883 | Nestor-Guillermo progeria syndrome | Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance ... | Inherited metabolic disorder | |
| H01884 |
Auriculocondylar syndrome Question mark ears syndrome |
Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix ... | Congenital malformation | |
| H01885 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome MPPH syndrome |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly ... | Congenital malformation | |
| H01886 | Van den Ende-Gupta syndrome | Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia ... | Congenital malformation |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |