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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00963 | Congenital hereditary endothelial dystrophy | Congenital hereditary endothelial dystrophy (CHED) is a rare inheritable disorder of the corneal endothelium characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild ... | Nervous system disease | |
| H00964 | Poor metabolism of thiopurines | Poor metabolism of thiopurines (THPM) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of ... | Inherited metabolic disorder | |
| H00965 | RAPADILINO syndrome | RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation ... | Congenital malformation | |
| H00966 |
AICA-ribosiduria ATIC deficiency |
AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates ... | Inherited metabolic disorder | |
| H00967 | Adiponectin deficiency | Adiponectin is a major adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency (ADPOD) related to several obesity related malignancies ... | Inherited metabolic disorder | |
| H00968 |
Raine syndrome Lethal osteosclerotic bone dysplasia |
Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period ... | Congenital malformation | |
| H00969 | Skeletal defects, genital hypoplasia, and mental retardation | This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the ... | Congenital malformation | |
| H00970 | Juvenile primary lateral sclerosis | Juvenile primary lateral sclerosis (JPLS) is a very rare progressive paralytic disorder characterized by increasing weakness and stiffness of muscles in the arms, legs and face. Although primary lateral ... | Neurodegenerative disease | |
| H00971 |
Achromatopsia Rod monochromacy |
Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual acuity, photophobia, nystagmus, difficulty ... | Nervous system disease | |
| H00972 | Endocrine-cerebro-osteodysplasia syndrome | Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia ... | Congenital malformation | |
| H00973 | Bradyopsia | Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing ... | Nervous system disease | |
| H00974 | Blue cone monochromacy | Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities ... | Nervous system disease | |
| H00975 |
Rotaviral enteritis Rotaviral gastroenteritis |
Rotaviral enteritis is the main diarrheal disease in infants caused by rotavirus infection. Rotaviruses are members of the Reoviridae family and contain genomes consisting of eleven segments of double-stranded ... | Viral infectious disease | |
| H00976 | Colorblindness | Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms ... | Nervous system disease | |
| H00977 | Trichorhinophalangeal syndrome | Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III ... | Congenital malformation | |
| H00978 | Thrombocytopenia (THC) | Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... | Hematologic disease | |
| H00979 |
Sacral defect with anterior meningocele Caudal regression syndrome |
Sacral defect with anterior meningocele (SDAM), also known as caudal regression syndrome, is a rare malformation that represents a spectrum of caudal anomalies. Clinical findings include varying degrees ... | Congenital malformation | |
| H00980 | Nevo syndrome | Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. | Congenital malformation | |
| H00981 |
Ataxia with isolated vitamin E deficiency (AVED) Friedreich-like ataxia |
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral ... | Inherited metabolic disorder | |
| H00982 | Sideroblastic anemia | Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused ... | Hematologic disease | |
| H00983 | Alpha-2-plasmin inhibitor (a2-PI) deficiency | Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor ... | Hematologic disease | |
| H00984 | MHC class I deficiency | MHC class I deficiency (MHC1D) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression ... | Immune system disease | |
| H00985 | MHC class II deficiency | Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression ... | Immune system disease | |
| H00986 | Multiple pterygium syndrome | The multiple pterygium syndromes (MPS) are a spectrum of phenotypically heterogenous disorders that can be divided into prenatally lethal (LMPS) and nonlethal Escobar (EVMPS) types. The clinical features ... | Congenital malformation | |
| H00987 |
Fetal akinesia deformation sequence Pena-Shokeir syndrome, type 1 |
Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development ... | Congenital malformation | |
| H00988 |
Enterokinase deficiency Enteropeptidase deficiency |
Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates ... | Inherited metabolic disorder | |
| H00989 | Mohr-Tranebjaerg syndrome | Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. ... | Nervous system disease | |
| H00990 |
Microcephaly, Amish type Thiamine metabolism dysfunction syndrome 3 |
Microcephaly, Amish type (MCPHA), also known as thiamine metabolism dysfunction syndrome 3 (THMD3), is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated ... | Congenital malformation | |
| H00991 | Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) | Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate ... | Congenital malformation | |
| H00992 | Seckel syndrome | Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental ... | Congenital malformation | |
| H00993 |
Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) Taybi-Linder syndrome |
Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized ... | Congenital malformation | |
| H00994 | Familial skewed X-chromosome inactivation | X chromosome inactivation is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females that equalizes the effective dosage of X-linked genes between XX ... | Chromosomal abnormality | |
| H00995 | Combined deficiency of vitamin K-dependent clotting factors | Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors ... | Cardiovascular disease | |
| H00996 | Amish infantile epilepsy syndrome | Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result ... | Inherited metabolic disorder | |
| H00997 | CATSHL syndrome | CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth ... | Congenital malformation | |
| H00998 | Alternating hemiplegia of childhood | Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days ... | Nervous system disease | |
| H00999 | Coenzyme Q10 deficiency | Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem ... | Inherited metabolic disorder | |
| H01000 | Retinal vasculopathy with cerebral leukodystrophy | Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal ... | Nervous system disease | |
| H01001 | COACH syndrome | COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain ... | Congenital malformation | |
| H01002 | Generalized arterial calcification of infancy | Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular ... | Cardiovascular disease |
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