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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02568 | Polymerase proofreading-associated polyposis | Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant cancer syndrome caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous ... | Cancer | |
| H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused ... | Hematologic disease | |
| H02570 | Cerebro-oculo-facio-skeletal syndrome | Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2 ... | Congenital malformation | |
| H02571 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental ... | Nervous system disease | |
| H02572 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress ... | Nervous system disease | |
| H02573 | Autosomal recessive spinocerebellar ataxias with axonal neuropathy | Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy | Neurodegenerative disease | |
| H02574 | BILU syndrome | BILU (B-cell immunodeficiency, distal limb anomalies, and urogenital malformations) syndrome is a novel multiple congenital anomalies syndrome that include both skeletal dysplasia and immune deficiency ... | Immune system disease | |
| H02575 | Lactose intolerance, adult type | Lactose intolerance, adult type is a common condition resulting from the physiological decline in activity of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults ... | Inherited metabolic disorder | |
| H02576 | Familial cutaneous telangiectasia and cancer syndrome | Familial cutaneous telangiectasia and cancer syndrome (FCTCS) is an autosomal dominant disease caused by germline mutations in ATR. ATR is an essential regulator of genome integrity. It controls and coordinates ... | Congenital malformation | |
| H02577 | Karyomegalic interstitial nephritis | Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations ... | Urinary system disease | |
| H02578 | Short stature, microcephaly, and endocrine dysfunction | Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic ... | Congenital malformation | |
| H02579 | C3 glomerulopathy | C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies ... | Immune system disease; Urinary system disease | |
| H02580 | Hereditary sensory neuropathy with spastic paraplegia | Hereditary sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. The autosomal recessive form is characterised by progressive ... | Nervous system disease | |
| H02581 | Juberg-Hayward syndrome | Juberg-Hayward syndrome (JHS) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation ... | Congenital malformation | |
| H02582 | Mullegama-Klein-Martinez syndrome | Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in ... | Congenital malformation | |
| H02583 | X-linked intellectual disability-hypotonic facies syndrome | X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial ... | Congenital malformation | |
| H02584 | Ferguson-Bonni neurodevelopmental syndrome | Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase ... | Congenital malformation | |
| H02585 | Roifman-Chitayat syndrome | Roifman-Chitayat syndrome (ROCHIS) is a combined immunodeficiency, characterized by facial dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays ... | Immune system disease | |
| H02586 | Distal myopathy with rimmed vacuoles | Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant distal myopathy. It has been reported that mutations in SQSTM1 cause this disease. SQSTM1 is an autophagic adaptor that shuttles aggregated ... | Nervous system disease; Musculoskeletal disease | |
| H02587 | Luo-Schoch-Yamamoto syndrome | Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral ... | Congenital malformation | |
| H02588 |
NLRP1-associated autoinflammation with arthritis and dyskeratosis Autoinflammation with arthritis and dyskeratosis |
NLRP1-associated autoinflammation with arthritis and dyskeratosis (NAIAD) is an autoinflammatory disease characterized by recurrent fever, arthritis, dyskeratosis, and slight autoimmunity. It has been ... | Immune system disease | |
| H02589 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder caused by mutations in actin-regulatory gene WDR1. WDR1 is a WD40 repeat protein that ... | Immune system disease | |
| H02590 |
Acute febrile neutrophilic dermatosis Pyrin-associated autoinflammatory disease Sweet syndrome |
Acute febrile neutrophilic dermatosis (AFND), also referred to as pyrin-associated autoinflammatory disease (PAAND), is an autosomal dominant autoinflammatory disorder characterized by fever and arthritis ... | Immune system disease | |
| H02591 | Interleukin-18 binding protein deficiency | Interleukin-18 binding protein deficiency is caused by inborn errors in IL18BP, which encodes IL-18 binding protein (IL-18BP), resulting in fulminant viral hepatitis (FVH) by unleashing IL-18. IL-18BP ... | Immune system disease | |
| H02592 | Familial Behcet-like autoinflammatory syndrome | Familial Behcet-like autoinflammatory syndrome (AIFBL) is an autosomal dominant monogenic autoinflammatory disease characterized by early-onset systemic inflammation, arthralgia/arthritis, oral/genital ... | Immune system disease | |
| H02593 | Chronic mucocutaneous ulceration | Chronic mucocutaneous ulceration (CMCU) is characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA ... | Immune system disease | |
| H02594 | Congenital facial palsy with ptosis and velopharyngeal dysfunction | Congenital facial palsy with ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules ... | Nervous system disease | |
| H02595 | Oculoskeletodental syndrome | Oculoskeletodental syndrome is a novel syndromic disorder involving neurological, visual, skeletal, growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in ... | Congenital malformation | |
| H02596 | Disorders of carnitine transport and the carnitine cycle | Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes ... | Inherited metabolic disorder | |
| H02597 | Sepiapterin reductase deficiency | Sepiapterin reductase deficiency is a very rare autosomal recessive disease resulting in monoamine neurotransmitter depletion. Patients exhibit progressive psychomotor retardation, dystonia, dopamine and ... | Inherited metabolic disorder | |
| H02598 | Progressive leukoencephalopathy | Progressive leukoencephalopathy is a group of inherited disorders of cerebral white matter, characterized by neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. It includes ... | Nervous system disease | |
| H02599 | Inherited autoinflammatory disease | Inherited autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. NLRC4 inflammasomopathy ... | Immune system disease | |
| H02600 | Congenital tracheal stenosis | Congenital tracheal stenosis (CTS) is a rare but potentially life-threatening disorder that often leads to severe respiratory insufficiency, particularly in neonates and infants. CTS is characterized by ... | Congenital malformation | |
| H02601 |
Pulmonary arterial sling Vascular sling |
Pulmonary arterial sling (PAS) is a relatively rare congenital anomaly in which left pulmonary artery branch originates abnormally from the right pulmonary artery, eventually resulting with respiratory ... | Congenital malformation | |
| H02602 | Congenital tricuspid valve stenosis | Congenital tricuspid valve stenosis is a rare congenital malformation characterized by narrowing of the tricuspid valve, which may restrict blood flow from the right atrium to the right ventricle. Congenital ... | Congenital malformation | |
| H02603 | Congenital mitral valve stenosis | Congenital mitral stenosis (MS) is a spectrum of defects that result in functional and anatomic obstruction of inflow into the left ventricle. Congenital MS classically has been divided into 4 anatomic ... | Congenital malformation | |
| H02604 | Chromosome 1q21.1 duplication syndrome | Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants are associated with highly variable phenotypes. Individuals with 1q21.1 deletions or duplications exhibit ... | Chromosomal abnormality | |
| H02605 | Congenital pulmonary venous stenosis | Congenital pulmonary venous stenosis is a rare condition with fibromyxoid intimal proliferation leading to obstruction of the large pulmonary veins and of blood flow from the lungs to the left atrium. ... | Congenital malformation | |
| H02606 | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neuronal migration disorder. It has been reported that PAMDDFS is caused ... | Congenital malformation | |
| H02607 | Short stature and microcephaly with genital anomalies | Short stature and microcephaly with genital anomalies (SSMGA) is a new autosomal recessive syndrome of severe growth failure. It has been reported that mutations in CENPT cause this syndrome. CENPT is ... | Congenital malformation |
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