Search Result |
Top |
| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02167 | Lymphedema-distichiasis syndrome | Lymphedema-distichiasis syndrome (LD) is an autosomal dominant disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be ... | Congenital malformation | |
| H02168 | Hypotrichosis-lymphedema-telangiectasia syndrome | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is an extremely rare lymphedema syndrome. The transcription factor SOX18 was shown to play a role in the development of hair, blood vessels and lymphatic ... | Congenital malformation | |
| H02169 | Hennekam lymphangiectasia-lymphedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is characterized by congenital lymphedema, lymphangiectasia, unusual facial morphology, and variable intellectual disabilities. Mutations in CCBE1 ... | Congenital malformation | |
| H02170 | Microphthalmia, syndromic | Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... | Congenital malformation | |
| H02171 | Rocio viral encephalitis | Rocio viral encephalitis is an infection of the central nervous system caused by Rocio virus (ROCV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. ROCV ... | Viral infectious disease | |
| H02172 | Nanophthalmos | Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance ... | Congenital malformation | |
| H02173 | Arenaviral hemorrhagic fever | Arenaviral hemorrhagic fever is a group of infectious diseases caused by Arenaviruses, which are in the genus Mammarenavirus, the family Arenaviridae of -ssRNA viruses. Arenaviruses have a natural reservoir ... | Viral infectious disease | |
| H02174 | Sudden infant death with dysgenesis of the testes syndrome | Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth ... | Nervous system disease | |
| H02175 | Hypospadias | Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic ... | Congenital malformation | |
| H02176 | Cryptorchidism | Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors ... | Congenital malformation | |
| H02177 | Androgen insensitivity syndrome | Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals ... | Congenital malformation | |
| H02178 |
MASA syndrome X-linked hereditary spastic paraplegia |
MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs) is an X-linked disorder. The main clinical features are summarised by the acronym. Mutations in the gene for neural cell ... | Nervous system disease | |
| H02179 | Rippling muscle disease | Rippling muscle disease (RMD) is an autosomal-dominant disorder of skeletal muscle characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced ... | Nervous system disease; Musculoskeletal disease | |
| H02180 | McKusick-Kaufman syndrome | McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital ... | Congenital malformation | |
| H02181 |
Idiopathic hyperCKemia Elevated serum creatine phosphokinase |
Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle ... | Inherited metabolic disorder | |
| H02182 | Distal myopathy, Tateyama type | Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and ... | Nervous system disease; Musculoskeletal disease | |
| H02183 |
Parastremmatic dwarfism Parastremmatic dysplasia |
Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees ... | Congenital malformation | |
| H02184 | Metatropic dysplasia | Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent ... | Congenital malformation | |
| H02185 | Spondylometaphyseal dysplasia | The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski ... | Congenital malformation | |
| H02186 |
Spondyloepiphyseal dysplasia, Maroteaux type Pseudo-Morquio syndrome type 2 |
Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the ... | Congenital malformation | |
| H02187 | Spondyloepimetaphyseal dysplasia | Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... | Congenital malformation | |
| H02188 |
Watson syndrome Pulmonary valvular stenosis with cafe au lait spots |
Watson syndrome (WTSN) is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes ... | Congenital malformation | |
| H02189 | Neurofibromatosis-Noonan syndrome | Neurofibromatosis-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders, neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). NF1 is characterized by neurofibromas ... | Congenital malformation | |
| H02190 |
CBL syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
CBL is a ubiquitously expressed E3 ubiquitin ligase that negatively regulates intracellular signalling downstream of receptor tyrosine kinases. Missense CBL mutations cause impaired growth, developmental ... | Congenital malformation | |
| H02191 | Noonan-like syndrome with loose anagen hair | Noonan-like syndrome with loose anagen hair (NSLH) is characterized by features similar to those observed in Noonan syndrome. Besides, the most characteristic feature is the hair anomaly, including easily ... | Congenital malformation | |
| H02192 | Benign recurrent intrahepatic cholestasis | Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ... | Digestive system disease | |
| H02193 |
Intrahepatic cholestasis of pregnancy Obstetric cholestasis |
Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes ... | Digestive system disease | |
| H02194 | North American Indian childhood cirrhosis | North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal ... | Digestive system disease | |
| H02195 | MEHMO syndrome | MEHMO syndrome is a rare X-linked syndrome characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It has been reported that MEHMO syndrome is associated with ... | Congenital malformation | |
| H02196 | X-linked creatine deficiency syndrome | Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked ... | Inherited metabolic disorder | |
| H02197 | Mitochondrial pyruvate carrier deficiency | Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development. Patients present with severe lactic acidosis, normal lactate/pyruvate ... | Inherited metabolic disorder | |
| H02198 |
Pancreatic agenesis and congenital heart disease Pancreatic hypoplasia diabetes heart disease Yorifuji-Okuno syndrome |
Pancreatic agenesis and congenital heart disease is a rare autosomal dominant disorder characterized by neonatal diabetes with pancreatic hypoplasia and congenital heart disease. Mutations in GATA6 have ... | Congenital malformation | |
| H02199 | Congenital heart defects, multiple type | Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... | Congenital malformation | |
| H02200 |
Leukoencephalopathy, progressive, with ovarian failure Ovarioleukodystrophy |
Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with ... | Nervous system disease | |
| H02201 | Mitochondrial myopathy with lactic acidosis | Mitochondrial myopathy with lactic acidosis is an autosomal recessive metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function ... | Inherited metabolic disorder | |
| H02202 | Oblique facial cleft | Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein ... | Congenital malformation | |
| H02203 | Optic nerve hypoplasia | Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. ONH may occur as an isolated defect or in association with other ... | Congenital malformation | |
| H02204 |
Hereditary hyperferritinaemia-cataract syndrome Bonneau-Beaumont syndrome |
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin ... | Nervous system disease | |
| H02205 | Mucopolysaccharidosis-plus syndrome | Mucopolysaccharidosis-plus syndrome is a new type of mucopolysaccharidosis (MPS) that is not caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels ... | Inherited metabolic disorder | |
| H02206 |
Aceruloplasminemia Ceruloplasmin deficiency |
Aceruloplasminemia (ACP) is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders ... | Nervous system disease |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |