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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02047 | Bohring-Opitz syndrome | Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies ... | Congenital malformation | |
| H02048 | Larsen syndrome | Larsen syndrome (LRS) is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently ... | Congenital malformation | |
| H02049 | Bilateral macronodular adrenal hyperplasia | Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal ... | Endocrine and metabolic disease | |
| H02050 | Prepubertal periodontitis | Prepubertal periodontitis (PPP) is a rare and rapidly progressive disease of young children that results in destruction of the periodontal support of the primary dentition. Both autosomal dominant and ... | Digestive system disease | |
| H02051 | May-Hegglin anomaly | The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested ... | Cardiovascular disease | |
| H02052 | Sebastian syndrome | Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result ... | Cardiovascular disease | |
| H02053 | Fechtner syndrome | Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features ... | Cardiovascular disease | |
| H02054 | Crigler-Najjar syndrome | Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin ... | Inherited metabolic disorder | |
| H02055 | Gilbert syndrome | Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion ... | Inherited metabolic disorder | |
| H02056 | Dubin-Johnson syndrome | Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused ... | Inherited metabolic disorder | |
| H02057 | Rotor syndrome | Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted ... | Inherited metabolic disorder | |
| H02058 | Kohlschutter-Tonz syndrome | Kohlschutter-Tonz syndrome (KTS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused ... | Nervous system disease | |
| H02059 | Leptin deficiency | Congenital leptin deficiency (LEPD) is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition have been ... | Endocrine and metabolic disease | |
| H02060 | Leptin receptor deficiency | Leptin receptor deficiency (LEPRD) is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease | Endocrine and metabolic disease | |
| H02061 | Estrogen resistance syndrome | Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who have mutations in ESR1 gene have been reported ... | Endocrine and metabolic disease | |
| H02062 | Familial digital arthropathy-brachydactyly | Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal ... | Musculoskeletal disease | |
| H02063 | Diastrophic dysplasia | Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. ... | Congenital malformation | |
| H02064 | Atelosteogenesis type I and III | Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations ... | Congenital malformation | |
| H02065 |
Achondrogenesis type IB Achondrogenesis, Fraccaro type |
Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier ... | Congenital malformation | |
| H02066 |
Achondrogenesis type II Achondrogenesis, Langer-Saldino type |
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations. | Congenital malformation | |
| H02067 | Boomerang dysplasia | Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang like aspect of the long ... | Congenital malformation | |
| H02068 | Hypochondroplasia | Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth ... | Congenital malformation | |
| H02069 |
SADDAN Severe achondroplasia with developmental delay and acanthosis nigricans |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3). | Congenital malformation | |
| H02070 | Kniest dysplasia | Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face ... | Congenital malformation | |
| H02071 | Czech dysplasia | Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical ... | Congenital malformation | |
| H02072 | Stickler syndrome | Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy ... | Congenital malformation | |
| H02073 | Wagner syndrome | Wagner syndrome is a rare dominantly inherited vitreoretinopathy, characterized by an optically empty vitreous with avascular vitreous strands and veils. Wagner syndrome is caused by mutations in VCAN ... | Nervous system disease | |
| H02074 | Knobloch syndrome | Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations ... | Congenital malformation | |
| H02075 | Enhanced S-cone syndrome | Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness ... | Nervous system disease | |
| H02076 | Bacteroides infection | The genus Bacteroides, anaerobic, bile-resistant, non-spore-forming, gram-negative rod, is capable of causing very serious infections (e.g., intra-abdominal sepsis and bacteremia). Particularly, intra-abdominal ... | Bacterial infectious disease | |
| H02077 | Snowflake vitreoretinal degeneration | Snowflake vitreoretinal degeneration (SVD) is an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment ... | Nervous system disease | |
| H02078 | Vitreoretinochoroidopathy | Vitreoretinochoroidopathy (VRCP) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects ... | Nervous system disease | |
| H02079 |
Oto-spondylo-megaepiphyseal dysplasia OSMED Weissenbacher-Zweymuller syndrome |
Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical ... | Congenital malformation | |
| H02080 | Fibrochondrogenesis | Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently ... | Congenital malformation | |
| H02081 | Marshall syndrome | Marshall syndrome (MRSHS) is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high ... | Congenital malformation | |
| H02082 | Floating-Harbor syndrome | Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease | Congenital malformation | |
| H02083 | Focal facial dermal dysplasia | The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the ... | Congenital malformation | |
| H02084 | Native American myopathy | Native American myopathy (NAM) is autosomal recessive myopathy that was first reported in the Lumbee Indians of North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia ... | Nervous system disease; Musculoskeletal disease | |
| H02085 | Acyl-CoA dehydrogenase 9 deficiency | Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation ... | Inherited metabolic disorder | |
| H02086 | Mitochondrial complex III deficiency | Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney ... | Inherited metabolic disorder, Mitochondrial disease |
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