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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02327 | KBG syndrome | KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease. | Congenital malformation | |
| H02328 | Sifrim-Hitz-Weiss syndrome | Sifrim-Hitz-Weiss syndrome is characterized by developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism ... | Congenital malformation | |
| H02329 | Hepatic lipase deficiency | Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations ... | Inherited metabolic disorder | |
| H02330 | Pancreatic lipase deficiency | Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal ... | Inherited metabolic disorder | |
| H02331 |
Gastrointestinal defects and immunodeficiency syndrome Combined immunodeficiency with multiple intestinal atresia |
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects ... | Congenital malformation | |
| H02332 | Preaxial polydactyly | Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand ... | Congenital malformation | |
| H02333 | Laurin-Sandrow syndrome | Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that ... | Congenital malformation | |
| H02334 | Pierpont syndrome | Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 have been ... | Congenital malformation | |
| H02335 | Preimplantation embryonic lethality | Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating ... | Reproductive system disease | |
| H02336 | Deafness, Y-linked | Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although ... | Nervous system disease | |
| H02337 | Skraban-Deardorff syndrome | Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease | Congenital malformation | |
| H02338 | PEHO-like syndrome | PEHO syndrome [DS:H02252] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either ... | Nervous system disease | |
| H02339 | Auditory neuropathy | Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible ... | Nervous system disease | |
| H02340 | Absorptive hypercalciuria | Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium ... | Inherited metabolic disorder | |
| H02341 | Goldmann-Favre syndrome | Goldmann-Favre syndrome (GFS) is an autosomal recessive progressive retinal degeneration that develops due to a mutation in the NR2E3 gene, which has a role in the regulation of cone cell differentiation ... | Nervous system disease | |
| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported ... | Nervous system disease | |
| H02343 | EVEN-plus syndrome | EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin ... | Congenital malformation | |
| H02344 |
Cowchock syndrome X-linked Charcot-Marie-Tooth disease type 4 |
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. This syndrome is associated with a mutation in AIFM1, the gene ... | Nervous system disease | |
| H02345 | Autosomal recessive peripheral neuropathy | Autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with ... | Nervous system disease | |
| H02346 | Intellectual developmental disorder with short stature | Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short ... | Congenital malformation | |
| H02347 | Thauvin-Robinet-Faivre syndrome | Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, ... | Congenital malformation | |
| H02348 | Dentin dysplasia | Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) ... | Congenital malformation | |
| H02349 |
Odontochondrodysplasia Goldblatt syndrome |
Odontochondrodysplasia (ODCD), also known as Goldblatt syndrome, is a genetic disorder of skeletal and dental development. Clinical findings are short stature, narrow chest, mesomelic limb shortening, ... | Congenital malformation | |
| H02350 | Dyschromatosis universalis hereditaria | Dyschromatosis universalis hereditaria (DUH) is a group of congenital pigmentary disorders characterized by asymptomatic hypo- and hyper-pigmented macules of irregular size and shape which appear early ... | Skin disease | |
| H02351 | Cowpox | Human cowpox is a rare zoonotic infectious disease caused by cowpox virus (CPXV), an orthopoxvirus in the Poxviridae family of dsDNA viruses. CPXV can infect a broad range of hosts. Natural reservoir hosts ... | Viral infectious disease | |
| H02352 | Vaccinia | Vaccinia is an infectious disease caused by vaccinia virus, an orthopoxvirus in the Poxviridae family of dsDNA viruses. Vaccinia virus has been used as a smallpox vaccine. Several serious complications ... | Viral infectious disease | |
| H02353 |
Hyperekplexia and epilepsy Early infantile epileptic encephalopathy-8 |
Hyperekplexia and epilepsy is also known as early infantile epileptic encephalopathy 8 (EIEE8) [DS:H00606]. It is an X-linked mental retardation and sensory hyperarousal, caused by mutations in ARHGEF9 ... | Nervous system disease | |
| H02354 |
Orf Contagious pustular dermatitis Contagious ecthyma |
Orf is a highly contagious zoonotic infectious disease caused by orf virus, a parapoxvirus in the Poxviridae family of dsDNA viruses. Orf virus is transmitted to humans by direct or indirect contact with ... | Viral infectious disease | |
| H02355 | Deafness and myopia | Deafness and myopia (DFNMYP) is severe congenital myopia and sensorineural hearing loss in the absence of other systemic, ocular, or connective tissue manifestations. DFNMYP is caused by mutations in SLITRK6 ... | Nervous system disease | |
| H02356 |
PCWH syndrome Waardenburg-Shah syndrome, neurologic variant |
PCWH syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development ... | Nervous system disease | |
| H02357 | Congenital hypomyelinating neuropathy | Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed ... | Nervous system disease | |
| H02358 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination ... | Nervous system disease | |
| H02359 |
Dejerine-Sottas disease Charcot-Marie-Tooth disease type 3 |
Dejerine-Sottas disease (DSD), also known as Charcot-Marie-Tooth disease type 3, is a severe, demyelinating neuropathy, presenting in infancy with delayed motor development, very slow nerve conduction ... | Nervous system disease | |
| H02360 | Epileptic encephalopathy, childhood-onset | Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing ... | Nervous system disease | |
| H02361 | Myoclonic-atonic epilepsy | Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder caused by mutations in SLC6A1. GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and ... | Nervous system disease | |
| H02362 | Benign familial infantile seizure | Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor ... | Nervous system disease | |
| H02363 | Ververi-Brady syndrome | Ververi-Brady syndrome (VERBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that ... | Congenital malformation | |
| H02364 | Heart and brain malformation syndrome | Heart and brain malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding ... | Congenital malformation | |
| H02365 |
Helsmoortel-van der Aa syndrome Mental retardation, autosomal dominant 28 |
Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ... | Congenital malformation | |
| H02366 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy ... | Nervous system disease |
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