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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01808 | Hemiconvulsion-hemiplegia-epilepsy syndrome | Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare condition involving sudden and prolonged unilateral seizures in infancy and early childhood, followed by hemiplegia. The prolonged focal motor ... | Nervous system disease | |
| H01809 | Sturge-Weber syndrome | Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal ... | Congenital malformation | |
| H01810 | Congenital myopathy | The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... | Nervous system disease; Musculoskeletal disease | |
| H01811 | Arima syndrome | Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation. AS shares ... | Congenital malformation | |
| H01812 |
Rasmussen encephalitis Rasmussen syndrome |
Rasmussen encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration ... | Immune system disease; Nervous system disease | |
| H01813 | Lennox-Gastaut syndrome | Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures ... | Nervous system disease | |
| H01814 |
Stromme syndrome Apple peel syndrome with microcephaly and ocular anomalies Jejunal atresia with microcephaly and ocular anomalies |
Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease ... | Congenital malformation | |
| H01815 | Malignant migrating partial seizures in infancy | Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life ... | Nervous system disease | |
| H01816 | Frank-ter Haar syndrome | Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly ... | Congenital malformation | |
| H01817 |
Beukes hip dysplasia Beukes type hip dysplasia |
Beukes hip dysplasia (BHD) is an autosomal dominant disorder characterised by bilateral dysmorphism of the proximal femur, which results in severe degenerative osteoarthropathy. Pain develops in the hip ... | Congenital malformation | |
| H01818 | Dravet syndrome | The Dravet syndrome is a rare form of epileptic encephalopathy, and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. ... | Nervous system disease | |
| H01819 | Early myoclonic encephalopathy | Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern ... | Nervous system disease | |
| H01820 | Carney complex | Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. Further manifestations ... | Endocrine and metabolic disease | |
| H01821 | Spondylometaphyseal dysplasia with cone-rod dystrophy | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing ... | Congenital malformation | |
| H01822 | Epilepsy with myoclonic absence | Epilepsy with myoclonic absences (EMA) is characterized clinically by rhythmic and bilateral jerks of the limbs of severe intensity, often associated with a progressive tonic contraction. The diagnosis ... | Nervous system disease | |
| H01823 |
Myoclonic-astatic epilepsy Doose syndrome |
Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures ... | Nervous system disease | |
| H01824 |
CODAS syndrome Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome |
CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome is a rare multiple congenital anomalies syndrome. The anomalies referred to in the acronym are as follows: cerebral-developmental ... | Congenital malformation | |
| H01825 | Spondylometaphyseal dysplasia, Sedaghatian type | Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening ... | Congenital malformation | |
| H01826 | Mesial temporal lobe epilepsy with hippocampal sclerosis | Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a group of chronic disorders characterized by prominent neuronal loss and gliosis in the hippocampus and amygdala. MTLE-HS is restricted ... | Nervous system disease | |
| H01827 | Rolandic epilepsy, mental retardation, and speech dyspraxia | Rolandic epilepsy is the most frequent childhood focal epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 ... | Nervous system disease | |
| H01828 | Opsismodysplasia | Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and ... | Congenital malformation | |
| H01829 | Acute encephalitis with refractory repetitive partial seizures | Acute encephalitis with refractory, repetitive partial seizures (AERRPS) is a new epileptic syndrome mainly affecting children. AERRPS has not been perceived in Western countries, although it is widely ... | Nervous system disease | |
| H01830 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large ... | Congenital malformation | |
| H01831 | Ring chromosome 20 syndrome | Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most ... | Chromosomal abnormality | |
| H01832 |
Lenz-Majewski syndrome Lenz-Majewski hyperostotic dwarfism |
Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct ... | Congenital malformation | |
| H01833 | Hemimegalencephaly | Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated ... | Congenital malformation | |
| H01834 | Marshall-Smith syndrome | Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual ... | Congenital malformation | |
| H01835 | Neuronal migration disorder | Neuronal migration disorders (NMD) are developmental malformations of the cerebral hemispheres, frequently associated with severe epilepsy. They can be defined as cerebral malformations characterised by ... | Congenital malformation | |
| H01836 | Congenital pain insensitivity with anhidrosis | Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is a rare autosomal recessive disorder characterized by recurrent episodes of ... | Nervous system disease | |
| H01837 |
Congenital suprabulbar paresis Worster Drought syndrome |
Congenital suprabulbar paresis (Worster- Drought syndrome) is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing ... | Nervous system disease | |
| H01838 |
Mandibulofacial dysostosis with microcephaly Mandibulofacial dysostosis, Guion-Almeida type |
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant congenital anomaly syndrome. Affected patients have been primarily described as presenting with microcephaly, midface hypoplasia ... | Congenital malformation | |
| H01839 | Burn-McKeown syndrome | Burn-McKeown syndrome (BMKS) is a rare autosomal-recessive malformative craniofacial disorder characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphisms ... | Congenital malformation | |
| H01840 |
Moebius syndrome Mobius syndrome |
Moebius syndrome (MBS) is a complex, rare developmental anomaly of the hindbrain, that has been described as the combination of congenital palsies of the facial and abducens cranial nerves. Other cranial ... | Congenital malformation | |
| H01841 | Acute encephalopathy with biphasic seizures and late reduced diffusion | Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures. The etiology of AESD has been attributed to viral infection ... | Nervous system disease | |
| H01842 | Bickerstaff brainstem encephalitis | Bickerstaff's brainstem encephalitis (BBE) is a rare immune disorder in children, characterized by progressive ophthalmoplegia, ataxia, and disturbance of consciousness. Although the etiology of BBE is ... | Immune system disease; Nervous system disease | |
| H01843 | Cerebrocostomandibular syndrome | Cerebrocostomandibular syndrome (CCMS) is a rare autosomal dominant multiple malformation disorder characterized by posterior rib gaps and Pierre Robin sequence (micrognathia, glossoptosis, and cleft palate) ... | Congenital malformation | |
| H01844 | Diaphanospondylodysostosis | Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations ... | Congenital malformation | |
| H01845 |
Catel-Manzke syndrome Palatodigital syndrome Hyperphalangy syndrome |
Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing clinodactyly of the index finger. Pierre Robin sequence ... | Congenital malformation | |
| H01846 | Superficial siderosis | Superficial siderosis is a rare condition caused by hemosiderin deposits in the central nervous system (CNS). Classical type of superficial siderosis primarily affects the infratentorial regions and spinal ... | Nervous system disease | |
| H01847 |
Thrombocytopenia-absent radius syndrome TAR syndrome |
Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation ... | Congenital malformation |
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