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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01927 | Van der Woude syndrome | Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity ... | Congenital malformation | |
| H01928 |
Smith-Kingsmore syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
Smith-Kingsmore syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous ... | Congenital malformation | |
| H01929 | 2,4-Dienoyl-CoA reductase deficiency | Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01930 | Au-Kline syndrome | Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and ... | Congenital malformation | |
| H01931 |
Lethal-type popliteal pterygium syndrome Bartsocas-Papas syndrome (BPS) |
Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more ... | Congenital malformation | |
| H01932 | Ablepharon-macrostomia syndrome | Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported ... | Congenital malformation | |
| H01933 | Porokeratosis | Porokeratosis (POROK) is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella ... | Congenital malformation | |
| H01934 | Barber-Say syndrome | Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It ... | Congenital malformation | |
| H01935 | Familial hypercholanemia | Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation | Inherited metabolic disorder | |
| H01936 | Hyperbiliverdinemia | Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances ... | Inherited metabolic disorder | |
| H01937 |
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly Hydranencephaly with renal aplasia-dysplasia |
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55 ... | Congenital malformation | |
| H01938 | Hypermanganesemia with dystonia | Hypermanganesemia with dystonia (HMNDYT) is an autosomal recessive disorder of manganese (Mn) homeostasis. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter ... | Hematologic disease | |
| H01939 |
Glycogen storage disease type I Von Gierke disease |
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four ... | Inherited metabolic disorder | |
| H01940 |
Glycogen storage disease type II Pompe disease |
Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results ... | Inherited metabolic disorder, Lysosomal disease | |
| H01941 |
Glycogen storage disease type III Cori disease Forbes disease |
Glycogen storage disease type III (GSD-III), also known as Cori disease or Forbes disease, is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching ... | Inherited metabolic disorder | |
| H01942 |
Glycogen storage disease type IV Andersen disease |
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen ... | Inherited metabolic disorder | |
| H01943 |
Glycogen storage disease type V McArdle disease |
Glycogen storage disease type V (GSD-V), also known as McArdle disease, is an autosomal recessive disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen ... | Inherited metabolic disorder | |
| H01944 |
Glycogen storage disease type VI Hers disease |
Glycogen storage disease type VI (GSD-VI), also known as Hers disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VI is caused by mutations in the PYGL gene, which encodes liver glycogen ... | Inherited metabolic disorder | |
| H01945 |
Glycogen storage disease type VII Tarui disease |
Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle ... | Inherited metabolic disorder | |
| H01946 |
Glycogen storage disease type XI Lactate dehydrogenase A deficiency |
Glycogen storage disease type XI (GSD-XI) is an autosomal recessive disorder of glycogen metabolism. GSD-XI is caused by mutations in the LDHA gene, which encodes lactate dehydrogenase. | Inherited metabolic disorder | |
| H01947 | Fanconi-Bickel syndrome | Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical ... | Inherited metabolic disorder | |
| H01948 |
Glycogen storage disease type IX Phosphorylase kinase deficiency |
Glycogen storage disease type IX (GSD-IX), also known as Phosphorylase kinase deficiency, is a disorder of glycogen metabolism. The liver phosphorylase kinase is a heterotetramer that is composed of four ... | Inherited metabolic disorder | |
| H01949 |
Glycogen storage disease type 0b Muscle glycogen synthase deficiency |
Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, ... | Inherited metabolic disorder | |
| H01950 |
Glycogen storage disease type 0a Liver glycogen synthase deficiency |
Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0a is caused by mutations in the GYS2 gene, which ... | Inherited metabolic disorder | |
| H01951 | Glycogen storage disease type X | Glycogen storage disease type X (GSD-X) is an autosomal recessive disorder of glycogen metabolism. GSD-X is caused by mutations in the PGAM2 gene, which encodes the muscle phosphoglycerate mutase. The ... | Inherited metabolic disorder | |
| H01952 | Glycogen storage disease type XII | Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical ... | Inherited metabolic disorder | |
| H01953 | Glycogen storage disease type XIII | Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical ... | Inherited metabolic disorder | |
| H01954 |
Glycogen storage disease type XIV Congenital disorder of glycosylation type It |
Glycogen storage disease type XIV(GSD-XIV), also known as congenital disorder of glycosylation type It, is an autosomal recessive disorder of glycogen metabolism. GSD-XIV is caused by mutations in the ... | Inherited metabolic disorder | |
| H01955 | Glycogen storage disease type XV | Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentations ... | Inherited metabolic disorder | |
| H01956 | Glycogen storage disease of heart | Glycogen storage disease of heart (GSDH) is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized ... | Inherited metabolic disorder | |
| H01957 | Fukuyama congenital muscular dystrophy | Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD ... | Inherited metabolic disorder | |
| H01958 | Merosin-deficient congenital muscular dystrophy | Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations ... | Nervous system disease; Musculoskeletal disease | |
| H01959 | Muscular dystrophy-dystroglycanopathy type C | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder | |
| H01960 | Muscular dystrophy-dystroglycanopathy type B | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder | |
| H01961 | Congenital muscular dystrophy type 1C | Congenital muscular dystrophy type 1C (MDC1C) is a form of congenital muscular dystrophy with secondary laminin-2 (merosin) deficiency and abnormal glycosylation of alpha-dystroglycan. MDC1C is caused ... | Inherited metabolic disorder | |
| H01962 | Congenital muscular dystrophy type 1D | Congenital muscular dystrophy type 1D (MDC1D) is a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. MDC1D is caused by mutations in ... | Inherited metabolic disorder | |
| H01963 | Duchenne muscular dystrophy | Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer ... | Nervous system disease; Musculoskeletal disease | |
| H01964 | Becker muscular dystrophy | Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. In Becker muscular dystrophy, the ... | Nervous system disease; Musculoskeletal disease | |
| H01965 |
Miyoshi muscular dystrophy Miyoshi myopathy |
Miyoshi muscular dystrophy (MMD) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms ... | Nervous system disease; Musculoskeletal disease | |
| H01966 |
Cartilage-hair hypoplasia Metaphyseal dysplasia, McKusik type |
Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, ... | Ribosomopathy |
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