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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02087 |
Vertebral, cardiac, renal, and limb defects syndrome Congenital NAD deficiency disorder |
Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis ... | Inherited metabolic disorder | |
| H02088 |
Primary intraosseous vascular malformation Primary intraosseous hemangioma |
Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively ... | Cardiovascular disease | |
| H02089 | Winchester syndrome | Winchester syndrome is a rare skeletal disorder originally described nearly 50 years ago in two sisters with a severe crippling osteolysis. Previously, Winchester syndrome and multicentric osteolysis, ... | Musculoskeletal disease | |
| H02090 | Trehalase deficiency | Trehalase deficiency is a disorder characterized by abdominal pain, distention, and flatulence after trehalose ingestion. Trehalose is a disaccharide found in mushrooms, algae, and insect haemolymph. Intestinal ... | Inherited metabolic disorder | |
| H02091 | Jervell and Lange-Nielsen syndrome | Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. ... | Cardiovascular disease | |
| H02092 | von Willebrand disease | Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate ... | Hematologic disease | |
| H02093 |
Platelet-type von Willebrand disease Pseudo-von Willebrand disease |
Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein ... | Hematologic disease | |
| H02094 |
Carvajal syndrome Dilated cardiomyopathy with woolly hair and keratoderma |
Carvajal syndrome, also known as dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair ... | Congenital malformation | |
| H02095 | Perrault syndrome | Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in ... | Congenital malformation | |
| H02096 | Peroxisomal acyl-CoA oxidase deficiency | Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark ... | Inherited metabolic disorder | |
| H02097 |
Gray platelet syndrome Bleeding disorder platelet-type 4 |
Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS ... | Hematologic disease | |
| H02098 |
D-bifunctional protein deficiency DBP deficiency Bifunctional enzyme deficiency |
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional ... | Inherited metabolic disorder | |
| H02099 |
Alpha-methylacyl-CoA racemase deficiency AMACR deficiency |
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous ... | Inherited metabolic disorder | |
| H02100 | Peroxisomal fatty acyl-CoA reductase 1 disorder | Peroxisomal fatty acyl-CoA reductase 1 (FAR1) disorder is a peroxisomal disorder, that is also referred to as rhizomelic chondrodysplasia punctata type 4 (RCDP4). It is characterized by syndromic severe ... | Inherited metabolic disorder | |
| H02101 | Autosomal dominant sensory ataxia | Autosomal dominant sensory ataxia (ADSA) is a rare genetic condition that results in a progressive ataxia. ADSA is suggested to be caused by degeneration of the posterior columns of the spinal cord. The ... | Nervous system disease | |
| H02102 | Myhre syndrome | Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies ... | Congenital malformation | |
| H02103 | DeSanto-Shinawi syndrome | DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping ... | Chromosomal abnormality | |
| H02104 |
Megalocornea X-linked megalocornea |
Megalocornea (MGC1) is a rare congenital disease of the anterior eye segment characterized by bilateral enlarged corneas with a horizontal diameter of 13 mm or more (measured after the age of two years) ... | Nervous system disease | |
| H02105 | Prohormone convertase 1/3 deficiency | Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain ... | Endocrine and metabolic disease | |
| H02106 | Genetic obesity | Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... | Endocrine and metabolic disease | |
| H02107 | Bietti crystalline corneoretinal dystrophy | Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment ... | Nervous system disease | |
| H02108 | Basal laminar drusen | Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised ... | Nervous system disease | |
| H02109 | Combined malonic and methylmalonic aciduria | Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid. Unlike classic phenotype of ... | Inherited metabolic disorder | |
| H02110 |
Doyne honeycomb retinal dystrophy Malattia leventinese |
Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) is an autosomal dominant disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment ... | Nervous system disease | |
| H02111 |
Autism Autistic spectrum disorder Pervasive developmental disorder |
Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual ... | Mental and behavioural disorder | |
| H02112 |
Persistent hyperplastic primary vitreous Persistent fetal vasculature |
Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary ... | Nervous system disease | |
| H02113 | Infantile cerebellar-retinal degeneration | Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Recently, missense ... | Inherited metabolic disorder; Nervous system disease | |
| H02114 | Spastic paraplegia, optic atrophy, and neuropathy | Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset ... | Nervous system disease | |
| H02115 | Congenital aural atresia | Congenital aural atresia (CAA) is an autosomal dominant defect that is characterized by hypoplasia of the external auditory canal, often in association with dysmorphic features of auricle, middle ear, ... | Congenital malformation | |
| H02116 | Phosphoserine phosphatase deficiency | Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome ... | Inherited metabolic disorder | |
| H02117 | Neu-Laxova syndrome | Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is ... | Inherited metabolic disorder | |
| H02118 |
Agnathia-otocephaly complex Otocephaly |
Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or ... | Congenital malformation | |
| H02119 | Proteus syndrome | Proteus syndrome (PS) is a generally severe but highly variable disorder caused by an activating AKT1 mutation. The diagnosis of PS requires fulfillment of three general criteria: sporadic occurrence, ... | Congenital malformation | |
| H02120 | Anencephaly | Anencephaly (ANPH1) is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors ... | Congenital malformation | |
| H02121 |
Koolen-De Vries syndrome Chromosome 17q21.31 deletion syndrome Microdeletion 17q21.31 syndrome |
Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and ... | Chromosomal abnormality | |
| H02122 |
Chronic atrial and intestinal dysrhythmia CAID syndrome |
Chronic atrial and intestinal dysrhythmia, termed CAID syndrome, is a cohesinopathy syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has been ... | Cardiovascular disease | |
| H02123 | Celiac disease | Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient ... | Digestive system disease | |
| H02124 |
Interstitial lung and liver disease Hereditary pulmonary alveolar proteinosis with hepatic involvement |
Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood ... | Respiratory system disease | |
| H02125 | Cardiac conduction disease with or without dilated cardiomyopathy | Cardiac conduction disease with or without dilated cardiomyopathy (CCDD) is an autosomal dominant syndrome characterized by conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy ... | Cardiovascular disease | |
| H02126 | Mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia ... | Congenital malformation |
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