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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02127 | Yunis-Varon syndrome | Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and ... | Congenital malformation | |
| H02128 | Defects in lysosomal trafficking | Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides ... | Inherited metabolic disorder | |
| H02129 |
Prune belly syndrome Triad syndrome Eagle-Barret syndrome Abdominal musculature deficiency syndrome |
Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. ... | Congenital malformation | |
| H02130 |
Mucolipidosis III Pseudo-Hurler polydystrophy |
Mucolipidosis type III (MLIII), or pseudo-Hurler polydystrophy, is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. The clinical phenotype is variable, and some MLIII patients ... | Inherited metabolic disorder, Lysosomal disease | |
| H02131 | UV-sensitive syndrome | UV-sensitive syndrome (UV(S)S) is an autosomal recessive disorder characterized by mild photosensitivity in sun-exposed areas of the skin, with freckling and telangiectasia, but without the high propensity ... | Skin disease | |
| H02132 | Microcephaly syndrome | Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... | Congenital malformation | |
| H02133 |
Vici syndrome Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum |
Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and ... | Immune system disease | |
| H02134 |
Microphthalmia with limb anomalies Anophthalmia-syndactyly syndrome Waardenburg anophthalmia syndrome Ophthalmoacromelic syndrome |
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal-recessive disorder, presenting with unilateral or bilateral ... | Congenital malformation | |
| H02135 | Cone-rod dystrophy and hearing loss | Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating ... | Nervous system disease | |
| H02136 |
Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK deficiency |
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low ... | Inherited metabolic disorder | |
| H02137 | Laurence-Moon syndrome | Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, ... | Nervous system disease | |
| H02138 | Hereditary hypophophatemic rickets with hypercalciuria | Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients ... | Inherited metabolic disorder | |
| H02139 | Autosomal recessive hypophosphatemic rickets | Autosomal recessive hypophosphatemic rickets (ARHR) is a rare form of hypophosphatemic rickets that is caused by mutations in the DMP1 gene. DMP1 is highly expressed in mineralized tissues, especially ... | Inherited metabolic disorder | |
| H02140 | Boucher-Neuhauser syndrome | Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ... | Nervous system disease | |
| H02141 | Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone ... | Inherited metabolic disorder | |
| H02142 | X-linked recessive hypophosphatemic rickets | X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for ... | Inherited metabolic disorder | |
| H02143 | X-linked dominant hypophosphatemic rickets | X-linked dominant hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. XLH is characterized by a defect in renal phosphate transport, leading to phosphate wasting and hypo-phosphatemia ... | Inherited metabolic disorder | |
| H02144 |
Gordon Holmes syndrome Cerebellar ataxia and hypogonadotropic hypogonadism |
Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism ... | Nervous system disease | |
| H02145 |
Calcium oxalate nephrolithiasis Calcium oxalate urolithiasis |
Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children ... | Urinary system disease | |
| H02146 |
Glass syndrome Chromosome 2q32-q33 deletion syndrome SATB2-associated syndrome |
Glass syndrome, also known as SATB2-associated syndrome (SAS), is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial ... | Chromosomal abnormality | |
| H02147 | X-linked recessive nephrolithiasis with renal failure | X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis. It is characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal ... | Urinary system disease | |
| H02148 | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis | Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities ... | Urinary system disease | |
| H02149 | X-linked hypercalciuric nephrolithiasis | X-linked hypercalciuric nephrolithiasis (XLHN) includes four syndromes: X-linked recessive nephrolithiasis with renal failure, Dent disease, X-linked recessive hypophosphatemic rickets, and Low molecular ... | Urinary system disease | |
| H02150 | Infantile or early childhood epileptic encephalopathy | Infantile or early childhood epileptic encephalopathy (IECEE) is severe disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de ... | Nervous system disease | |
| H02151 | Hereditary congenital facial paresis | Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with ... | Congenital malformation | |
| H02152 |
Transient familial neonatal hyperbilirubinemia Lucey-Driscoll syndrome |
Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has ... | Inherited metabolic disorder | |
| H02153 |
Megalencephaly-capillary malformation syndrome MCAP syndrome |
Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective ... | Congenital malformation | |
| H02154 | Omodysplasia | Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican ... | Congenital malformation | |
| H02155 | Dyssegmental dysplasia | The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois ... | Congenital malformation | |
| H02156 |
Lamb-Shaffer syndrome 12p12.1 microdeletion syndrome |
Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused ... | Chromosomal abnormality | |
| H02157 | Short-rib thoracic dysplasia | Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia ... | Congenital malformation | hsa04010 MAPK signaling pathway |
| H02158 |
Weyers acrofacial dysostosis Curry-Hall syndrome |
Weyers acrofacial dysostosis (WAD), also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused ... | Congenital malformation | |
| H02159 |
Familial cold autoinflammatory syndrome Familial cold urticaria |
Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis ... | Immune system disease | |
| H02160 | Craniosynostoses | Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape. | Congenital malformation | |
| H02161 | Greig cephalopolysyndactyly syndrome | Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused ... | Congenital malformation | |
| H02162 | Viral hepatitis | Viral hepatitis is liver inflammation due to infection by viruses. There are five major hepatotropic viruses, which are different in viral taxonomy. Among them hepatitis B virus (HBV) and hepatitis C virus ... | Viral infectious disease | |
| H02163 | Oropouche fever | Oropouche fever is an infectious disease caused by Oropouche virus (OROV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by mosquitoes and biting midges. OROV was first ... | Viral infectious disease | |
| H02164 | Sandfly fever | Sandfly fever is an infectious disease caused by Sandfly fever Naples virus (SFNV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by biting midges and mosquitoes. SFNV was ... | Viral infectious disease | |
| H02165 | Colorado tick fever | Colorado tick fever is an infectious disease caused by Colorado tick fever virus (CTFV), a cortivirus in the Reoviridae family of dsRNA viruses, and transmitted by Rocky Mountain wood tick (Dermacentor ... | Viral infectious disease | |
| H02166 | Saint Louis encephalitis | Saint Louis encephalitis is an infection of the central nervous system caused by Saint Louis encephalitis virus (SLEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex ... | Viral infectious disease |
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