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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00524 | Scapuloperoneal spinal muscular atrophy | Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been ... | Nervous system disease | |
| H00525 | Disorders of mitochondrial fatty-acid oxidation | Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... | Inherited metabolic disorder | |
| H00526 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Jacobs syndrome |
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as ... | Congenital malformation | |
| H00527 | Retinitis pigmentosa | Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) ... | Nervous system disease | |
| H00528 | Frontonasal dysplasia | Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline ... | Congenital malformation | |
| H00529 | Cranioectodermal dysplasia | Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis ... | Congenital malformation | |
| H00530 | Joubert syndrome and related disorders | Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... | Congenital malformation | |
| H00531 | Venous malformations | Venous malformations are vascular anomalies that present with congenital blue-colored birthmarks resulted from dilated veins. Venous malformations are low-flow vascular malformations. Majority of them ... | Congenital malformation | |
| H00532 | Parkes Weber syndrome | Parkes Weber syndrome (PWS) is characterized by a large cutaneous vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity ... | Congenital malformation | |
| H00533 |
Hereditary hemorrhagic telangiectasia Osler disease |
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal ... | Congenital malformation | |
| H00534 | Cerebral cavernous malformation | Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages ... | Congenital malformation | |
| H00535 | Lymphatic malformation | Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic ... | Congenital malformation | |
| H00536 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) | CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the ... | Congenital malformation | |
| H00537 | Nephronophthisis | Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... | Congenital malformation | |
| H00538 | Senior-Loken syndrome | Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. | Congenital malformation | |
| H00539 | PTEN hamartoma tumor syndrome | PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant ... | Neoplasm | |
| H00540 |
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) Ectodermal dysplasia and immunodeficiency 1 (EDAID1) Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema |
A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which ... | Congenital malformation | |
| H00541 | Autosomal dominant tubulointerstitial kidney disease | Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading ... | Urinary system disease | |
| H00542 | Polycystic kidney disease | Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts. | Congenital malformation | |
| H00543 | Renal-hepatic-pancreatic dysplasia | Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations ... | Congenital malformation | |
| H00544 | Septo-optic dysplasia | Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction. | Congenital malformation | |
| H00545 | Polycystic liver disease | Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients ... | Congenital malformation | |
| H00546 | Atrial septal defect | Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that ... | Congenital malformation | |
| H00547 |
Atrioventricular septal defect Atrioventricular canal defect |
Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, ... | Congenital malformation | |
| H00548 |
Brunner syndrome MAOA deficiency |
Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin ... | Inherited metabolic disorder | |
| H00549 | Tetralogy of Fallot | The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from ... | Congenital malformation | |
| H00550 | Complete transposition of the great arteries | Complete transposition of the great arteries is a congenital heart defect with atrioventricular concordance and ventriculoarterial discordance in which the aorta arises from the morphologic right ventricle ... | Congenital malformation | |
| H00551 | Alagille syndrome | Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and ... | Congenital malformation | |
| H00552 | Chromosome Xp21 deletion syndrome | Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol ... | Chromosomal abnormality | |
| H00553 | Congenital supravalvular aortic stenosis | Congenital supravalvular aortic stenosis (SVAS) is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The ... | Congenital malformation | |
| H00554 |
Aortic valve disease Bicuspid aortic valve |
Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital ... | Congenital malformation | |
| H00555 | Char syndrome | Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of ... | Congenital malformation | |
| H00556 | CHARGE syndrome | CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia ... | Congenital malformation | |
| H00557 | Cutis laxa | Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the ... | Congenital malformation | |
| H00558 | Geroderma osteodysplasticum | Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been ... | Congenital malformation | |
| H00559 | von Hippel-Lindau syndrome | von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas ... | Congenital malformation | |
| H00560 | Pseudoxanthoma elasticum | Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels ... | Congenital malformation | |
| H00561 |
Brachydactyly-mental retardation syndrome Chromosome 2q37 deletion syndrome |
Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism ... | Chromosomal abnormality | |
| H00562 | Dystrophinopathies | Duchenne muscular dystrophy (DMD) is characterized by weakness of leg, pelvic and shoulder girdle muscles starting in early childhood. Becker muscular dystrophy (BMD) is a milder variant of DMD with a ... | Nervous system disease; Musculoskeletal disease | |
| H00563 | Emery-Dreifuss muscular dystrophy | Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal ... | Nervous system disease; Musculoskeletal disease |
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