| Entry |
Name |
Description |
Category |
Pathway |
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H02768
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Garg-Mishra progeroid syndrome
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Garg-Mishra progeroid syndrome (GMPGS) is an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. It has been reported that ...
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Congenital malformation
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H02769
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Tolchin-Le Caignec syndrome
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Tolchin-Le Caignec syndrome (TOLCAS) is a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas. It has been reported that mutations in SOX6 cause this syndrome. SOX6 ...
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Congenital malformation
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H02770
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Early-onset seizures with neurodegeneration and brain calcifications
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Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is a severe infantile-onset neurodegenerative disease characterized by refractory epilepsy, developmental regression, and ...
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Nervous system disease
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H02771
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Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy
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Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an adolescent onset mitochondrial myopathy. It has been reported that mutations in FDX2 cause ...
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Nervous system disease
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H02772
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Neurooculocardiogenitourinary syndrome
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Neurooculocardiogenitourinary syndrome (NOCGUS) is a severe multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac ...
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Congenital malformation
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H02773
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Menstrual cycle-dependent periodic fever
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Menstrual cycle-dependent periodic fever (PFMCD) is a rare disease characterized by recurrent high fever with each menstrual cycle. It has been reported mutations in HTR1A cause this disease. HTR1A encodes ...
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Endocrine and metabolic disease
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H02774
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Hypotaurinemic retinal degeneration and cardiomyopathy
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Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is a novel autosomal recessive disorder characterized by progressive childhood retinal degeneration, cardiomyopathy, and almost undetectable ...
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Inherited metabolic disorder
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H02775
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Visual impairment and progressive phthisis bulbi
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Visual impairment and progressive phthisis bulbi (VIPB) is a rare autosomal recessive disorder characterized by congenital vision loss and progressive eye degeneration. It has been reported that mutations ...
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Nervous system disease
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H02776
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Ventriculomegaly and arthrogryposis
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Ventriculomegaly and arthrogryposis (VENARG) is a rare autosomal recessive lethal fetal syndrome characterized by dilated cerebral ventricles and contracted limbs. It has been reported that mutations in ...
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Congenital malformation
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H02777
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Spastic paraplegia, intellectual disability, nystagmus, and obesity
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Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is a rare autosomal dominant disorder characterized by lower-limb hypertonia and weakness combined with obesity and intellectual ...
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Nervous system disease
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H02778
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Global developmental delay with or without impaired intellectual development
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Global developmental delay is a chronic neurological disturbance that includes defects in one or more developmental domains. It has been reported that mutations in CUX1 cause global developmental delay ...
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Nervous system disease
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H02779
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Riboflavin-responsive exercise intolerance
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Riboflavin-responsive exercise intolerance (RREI) is an autosomal recessive disorder with a neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness, and exercise intolerance ...
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Inherited metabolic disorder
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H02780
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Liberfarb syndrome
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Liberfarb syndrome (LIBF) is a multisystem disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis ...
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Congenital malformation
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H02781
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Ichthyosis with erythrokeratoderma
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Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant cornification disorder. It has been reported that KLK11 belongs to the kallikrein-related peptidase family associated with skin desquamation ...
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Congenital malformation
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H02782
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Fliedner-Zweier syndrome
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Fliedner-Zweier syndrome (FZS) is a novel autosomal dominant neurodevelopmental disorder characterized by intellectual disability, seizures, behavioral abnormalities, facial dysmorphisms, and skeletal ...
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Congenital malformation
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H02783
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Myopathy with rimmed ubiquitin-positive autophagic vacuolation
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Myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is an autosomal dominant myopathy characterized clinically by weakness in distal muscles and pathologically by rimmed ubiquitin-positive ...
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Musculoskeletal disease
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H02784
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Global developmental delay with speech and behavioral abnormalities
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Global developmental delay with speech and behavioral abnormalities (GDSBA) is a rare genetic disorder characterized by developmental delay/intellectual disability and a spectrum of neurobehavioral phenotypes ...
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Mental and behavioural disorder
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H02785
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Band heterotopia
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Band heterotopia (BH) is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms vary in severity of intellectual disability and may be associated with ...
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Congenital malformation
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H02786
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ENDOVE syndrome
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ENDOVE syndrome is a complex limb malformation featuring mesomelic shortening, syndactyly and ventral nails. Homozygous non-coding deletions located upstream of the engrailed-1 gene (EN1) have been identified ...
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Congenital malformation
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H02787
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Mahvash disease
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Mahvash disease (MVAH) is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic alpha cell hyperplasia. It has ...
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Endocrine and metabolic disease
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H02788
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Childhood-onset remitting leukodystrophy
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Childhood-onset remitting leukodystrophy (CORLK) is a novel white matter disease characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete recovery ...
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Nervous system disease
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H02789
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Familial myoclonus
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Myoclonus (MYOCL) is characterized by sudden, brief involuntary movements. It can be severely debilitating. Myoclonus is thought to arise from spinal, subcortical, or cortical neuronal hyperexcitability ...
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Nervous system disease
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H02790
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Hypokalemic tubulopathy and deafness
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Hypokalemic tubulopathy and deafness (HKTD) is a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness. It has been reported that mutations in KCNJ16 ...
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Inherited metabolic disorder
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H02791
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Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
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Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MMCKR) is a rare autosomal recessive myopathy with elevated creatine kinase level. It has been reported ...
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Musculoskeletal disease
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H02792
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Immune dysregulation, autoimmunity, and autoinflammation
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Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is a new immune dysregulation disease. It has been reported that a gain-of-function mutation in PLCG1 causes this disease. PLCG1 encodes ...
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Immune system disease
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H02793
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Temtamy syndrome
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Temtamy syndrome (TEMTYS) is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. It has been reported that mutations in C12orf57 ...
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Congenital malformation
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H02794
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Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
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Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome is a rare genetic retinal dystrophy disorder. It has been reported that mutations in ARL2 cause MRCS syndrome. ARL2 encodes ...
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Congenital malformation
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H02795
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Sessile serrated polyposis cancer syndrome
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The serrated polyposis syndrome comprises multiple epithelial polyps in the colon and rectum of serrated histology. The serrated polyposis syndrome is associated with colorectal cancer risk. Recently, ...
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Neoplasm
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H02796
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Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT
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Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (BAIPRCK) is an autosomal recessive disease characterized by congenital anomalies of the kidney and urinary tract (CAKUT) ...
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Congenital malformation
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H02797
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Siddiqi syndrome
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Siddiqi syndrome (SIDDIS) is a novel autosomal recessive deafness-dystonia syndrome. It has been reported that mutations in FITM2 cause this syndrome. FITM2 is required for normal fat storage and metabolism ...
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Congenital malformation
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H02798
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Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
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Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is a rare early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency ...
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Congenital malformation
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H02799
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Rh-induced hemolytic disease of the fetus and newborn
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Rh-induced hemolytic disease of the fetus and newborn (HDFNRH) is one of IgG- mediated red cell destruction. When an RhD negative mother is exposed to the RhD positive red cells, she develops allo-anti-D ...
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Hematologic disease
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H02800
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N-acetylaspartate deficiency
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N-acetylaspartate deficiency (NACED) is a very rare disorder characterized by the absence of brain N-acetylaspartate (NAA) with truncal ataxia, marked developmental delay, seizures, and secondary microcephaly ...
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Inherited metabolic disorder
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H02801
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Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
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Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is a rare autosomal recessive disease characterized by an unusual combination of highly variable skeletal defects in vertebrae ...
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Congenital malformation
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H02802
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Childhood-onset striatonigral degeneration
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Childhood-onset striatonigral degeneration (SNDC) is an abrupt onset progressive neurological disorder with regression of developmental milestones. Characteristic MRI findings as degenerative changes in ...
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Nervous system disease
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H02803
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Neurodevelopmental disorder with histone modification defect
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Epigenetic regulatory mechanisms, including histone modification, play critical roles in cell differentiation and organ development through spatial and temporal gene regulation. Many neurodevelopmental ...
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Congenital malformation
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H02804
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ReNU syndrome
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ReNU syndrome is a neurodevelopmental disorder characterized by intellectual disability, microcephaly, short stature, hypotonia, seizures and motor delay. It has been reported that mutations in RNU4-2 ...
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Congenital malformation
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H02805
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Sarcoplasmic body myopathy
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Sarcoplasmic body myopathy (MYOSB) is a rare autosomal dominant myopathy that manifests in adulthood with proximal and axial weakness and variable respiratory and cardiac failure. Muscle pathology features ...
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Musculoskeletal disease
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H02806
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Insulinomatosis and diabetes mellitus syndrome
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Insulinomatosis and diabetes mellitus syndrome (INSDM) is an autosomal dominant syndrome. Insulinomatosis is a condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting ...
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Endocrine and metabolic disease
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H02807
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Abnormality of alpha-fetoprotein
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Alpha-fetoprotein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal. Congenital AFP deficiency is a rare phenomenon. A few cases were studied, and mutations in the ...
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Hematologic disease
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