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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02207 |
Kufor-Rakeb syndrome Parkinson disease 9 |
Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia ... | Nervous system disease | |
| H02208 |
Pantothenate kinase-associated neurodegeneration Hallervorden-Spatz disease Neurodegeneration with brain iron accumulation 1 |
Pantothenate kinase associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease, is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical ... | Nervous system disease | |
| H02209 | HARP syndrome | HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration ... | Nervous system disease | |
| H02210 | Acromelic frontonasal dysostosis | Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie ... | Congenital malformation | |
| H02211 | Acrodysostosis | Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A ... | Congenital malformation | |
| H02212 | Familial infantile myoclonic epilepsy | Familial infantile myoclonic epilepsy (FIME) is a rare autosomal recessive idiopathic epilepsy. Idiopathic epilepsies are a group of disorders characterized by recurrent seizures in the absence of detectable ... | Nervous system disease | |
| H02213 |
Familial adult myoclonic epilepsy Benign adult familial myoclonic epilepsy |
Familial adult myoclonic epilepsy (FAME), also known as benign adult familial myoclonic epilepsy (BAFME), is an autosomal dominant disorder characterized by adult-onset tremulous hand movement, infrequent ... | Nervous system disease | |
| H02214 | Familial focal epilepsy with variable foci | Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal ... | Nervous system disease | |
| H02215 | Childhood absence epilepsy | Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences ... | Nervous system disease | |
| H02216 | Juvenile absence epilepsy | Juvenile absence epilepsy (JAE/EJA) is classified among the age-related idiopathic generalized epilepsies in adolescence. JAE is characterized by typical absence seizures, and a long-life prevalence of ... | Nervous system disease | |
| H02217 | Juvenile myoclonic epilepsy | Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks ... | Nervous system disease | |
| H02218 |
DOORS syndrome Eronen syndrome Digitorenocerebral syndrome |
DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome include sensorineural hearing loss, hypoplastic ... | Congenital malformation | |
| H02219 |
DDOD syndrome Dominant deafness-onychodystrophy |
Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome ... | Congenital malformation | |
| H02220 |
MEDNIK syndrome Erythrokeratodermia variabilis type 3 |
MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia) is a rare autosomal recessive neurocutaneous disease. MEDNIK syndrome is caused by AP1S1 gene ... | Congenital malformation | |
| H02221 | Methylmalonic aciduria and homocystinuria | Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary ... | Inherited metabolic disorder | |
| H02222 | Methylmalonic acidemia and hyperhomocysteinemia, cblX type | Methylmalonic acidemia and hyperhomocysteinemia (MAHC) cblX type is X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia. The clinical symptoms are similar to MAHC cblC type, that ... | Inherited metabolic disorder | |
| H02223 |
Osteocraniostenosis Gracile bone dysplasia |
Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and ... | Congenital malformation | |
| H02224 | Grange syndrome | Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome | Congenital malformation | |
| H02225 | Familial cirrhosis | Familial cirrhosis is a condition that is associated with the presence of liver disease with genetic linkage among multiple family members in a generation or in multiple generations. The well-documented ... | Digestive system disease | |
| H02226 |
Cardiospondylocarpofacial syndrome Forney syndrome |
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis ... | Congenital malformation | |
| H02227 | Frontometaphyseal dysplasia | Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently ... | Congenital malformation | |
| H02228 | Acromicric dysplasia | Acromicric dysplasia (ACMICD) is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. ... | Congenital malformation | |
| H02229 |
Terminal osseous dysplasia Terminal osseous dysplasia and pigmentary defects |
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in ... | Congenital malformation | |
| H02230 |
X-linked cardiac valvular dysplasia X-linked myxomatous valvular dystrophy |
X-linked cardiac valvular dysplasia (CVDPX) is characterized by mitral valve dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It ... | Congenital malformation | |
| H02231 | Optic disc anomalies with retinal and/or macular dystrophy | Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies ... | Congenital malformation | |
| H02232 |
CAGSSS syndrome Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) is a very rare autosomal recessive disorder. It has been reported that mutations in ... | Congenital malformation | |
| H02233 | Alazami syndrome | Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Mutations in LARP7, chaperone of 7SK ncRNA, cause ... | Congenital malformation | |
| H02234 | Hamamy syndrome | Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures ... | Congenital malformation | |
| H02235 | Morbid obesity and spermatogenic failure | Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, have been identified in patients. | Endocrine and metabolic disease | |
| H02236 | Keppen-Lubinsky syndrome | Keppen-Lubinsky syndrome (KPLBS) is a rare condition characterized by severely reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused ... | Inherited metabolic disorder | |
| H02237 | AMP deaminase deficiency | AMP deaminase is widely distributed in various mammalian cells and tissue-specific isozymes were found. Muscle specific AMP deaminase is also known as myoadenylate deaminase (MAD). MAD deficiency (MADD) ... | Inherited metabolic disorder | |
| H02238 | Spinal muscular atrophy with congenital bone fractures | Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease ... | Musculoskeletal disease | |
| H02239 | Ehlers-Danlos syndrome, spondylodysplastic type | Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients ... | Congenital malformation | |
| H02240 | Ehlers-Danlos syndrome periodontal type | Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings ... | Congenital malformation | |
| H02241 | Ehlers-Danlos syndrome cardiac valvular type | Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac ... | Congenital malformation | |
| H02242 |
Ehlers-Danlos syndrome vascular type Ehlers-Danlos syndrome type IV |
Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal ... | Congenital malformation | |
| H02243 | Ehlers-Danlos syndrome arthrochalasia type | Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations ... | Congenital malformation | |
| H02244 |
Ehlers-Danlos syndrome dermatosparaxis type Ehlers-Danlos syndrome type VIIC |
Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2 ... | Congenital malformation | |
| H02245 | Ehlers-Danlos syndrome kyphoscoliosis type | Ehlers-Danlos syndrome kyphoscoliosis type (EDSKSCL) is an autosomal recessive connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and ... | Congenital malformation | |
| H02246 | Ehlers-Danlos syndrome musculocontractural type | Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental ... | Congenital malformation |
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