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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02247 |
Ehlers-Danlos syndrome myopathic type Bethlem myopathy 2 |
Ehlers-Danlos syndrome myopathic type (EDSMYP), also known as Bethlem myopathy 2 (BTHLM2), shows clinical features of both a myopathy as well as of a disorder of connective tissue. Although the symptoms ... | Congenital malformation | |
| H02248 | MEND syndrome | MEND syndrome (male EBP disorder with neurological defects) is an X-linked recessive condition in males with a phenotype remarkable for Dandy-Walker like congenital brain malformation, cataracts, collodion ... | Congenital malformation | |
| H02249 | Primrose syndrome | Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified ... | Congenital malformation | |
| H02250 | Early-onset vitamin B6-dependent epilepsy | Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive disease, recently associated to mutations in PLPBP (PROSC) gene. PLPBP encodes a protein involved in pyridoxal phosphate (PLP) ... | Nervous system disease | |
| H02251 |
Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome |
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal ... | Nervous system disease | |
| H02252 | PEHO syndrome | The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy with hypotonia, seizures ... | Nervous system disease | |
| H02253 | Beaulieu-Boycott-Innes syndrome | Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate ... | Congenital malformation | |
| H02254 | Craniosynostosis and dental anomalies | Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities ... | Congenital malformation | |
| H02255 |
FDLAB syndrome Traboulsi syndrome |
Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome ... | Congenital malformation | |
| H02256 |
Factor VII deficiency Hypoproconvertinemia |
FVII deficiency is a rare autosomal recessive hemorrhagic condition of variable severity. FVII is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. ... | Hematologic disease | |
| H02257 | Factor X deficiency | Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations ... | Hematologic disease | |
| H02258 | Tubular aggregate myopathy | Tubular aggregate myopathy (TAM) is a hereditary muscle disorder characterized by the presence of tubular aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations ... | Musculoskeletal disease | |
| H02259 | Stormorken syndrome | Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis ... | Hematologic disease | |
| H02260 |
Chondrodysplasia Chassaing-Lacombe type Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
Chondrodysplasia Chassaing-Lacombe type is also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and ... | Congenital malformation | |
| H02261 |
PEBAT Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum |
Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include developmental ... | Nervous system disease | |
| H02262 |
PEBEL Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy |
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, ... | Nervous system disease | |
| H02263 | Focal nonepidermolytic palmoplantar keratoderma | Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful ... | Congenital malformation | |
| H02264 | Palmoplantar keratoderma, Nagashima type | Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces ... | Congenital malformation | |
| H02265 |
Annular epidermolytic ichthyosis Cyclic ichthyosis with epidermolytic hyperkeratosis |
Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is ... | Congenital malformation | |
| H02266 | Palmoplantar keratoderma, Bothnian type | Palmoplantar keratoderma, Bothnian type (PPKB) is one of the non-epidermolytic palmoplantar keratoderma. PPKB was initially reported to be prevalent in the north of Sweden, along the Gulf of Bothnia. The ... | Congenital malformation | |
| H02267 | Wilson-Turner syndrome | Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering ... | Congenital malformation | |
| H02268 | Wieacker-Wolff syndrome | Wieacker-Wolff syndrome (WRWF) is a rare X-linked disorder characterized by congenital contractures of the feet at birth, muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mental retardation ... | Musculoskeletal disease | |
| H02269 | Familial ventricular tachycardia | Sudden cardiac death resulting from ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic ... | Cardiovascular disease | |
| H02270 | Cavitary optic disc anomalies | Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase ... | Congenital malformation | |
| H02271 | Cerebellofaciodental syndrome | Cerebellofaciodental syndrome (CFDS) is an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly ... | Congenital malformation | |
| H02272 | CAPOS syndrome | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early ... | Congenital malformation | |
| H02273 | Nonprogressive cerebellar ataxia with mental retardation | Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral ... | Nervous system disease | |
| H02274 | Cerebellar atrophy, visual impairment, and psychomotor retardation | Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have ... | Congenital malformation | |
| H02275 |
Batten disease Spielmeyer-Vogt disease Juvenile neuronal ceroid lipofuscinoses |
Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration ... | Inherited metabolic disorder, Lysosomal disease | |
| H02276 |
Kufs disease Adult-onset neuronal ceroid lipofuscinosis |
Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided ... | Inherited metabolic disorder, Lysosomal disease | |
| H02277 |
Santavuori-Haltia disease Infantile neuronal ceroid lipofuscinosis |
Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients ... | Inherited metabolic disorder, Lysosomal disease | |
| H02278 |
Jansky-Bielschowsky disease Late infantile neuronal ceroid lipofuscinosis |
Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. ... | Inherited metabolic disorder, Lysosomal disease | |
| H02279 | Cathepsin D deficiency | Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon ... | Inherited metabolic disorder, Lysosomal disease | |
| H02280 |
Complex lethal osteochondrodysplasia Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type |
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple ... | Congenital malformation | |
| H02281 |
Isolated anhidrosis with normal sweat glands Dann-Epstein-Sohar syndrome |
Anhidrosis is defined as the absence of perspiration in the presence of an appropriate stimulus such as heat, exercise, or pharmacological agonists. Isolated anhidrosis with normal sweat glands (ANHD) ... | Skin disease | |
| H02282 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter ... | Congenital malformation | |
| H02283 | IVIC syndrome | The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the ... | Congenital malformation | |
| H02284 | Leukotriene C4 synthase deficiency | Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to ... | Inherited metabolic disorder | |
| H02285 | Methylmalonate semialdehyde dehydrogenase deficiency | Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency is a rare autosomal recessive disorder with varied metabolite abnormalities, including accumulation of 3-hydroxyisobutyric, 3-hydroxypropionic ... | Inherited metabolic disorder | |
| H02286 |
Congenital deafness with inner ear agenesis, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) |
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth ... | Congenital malformation |
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