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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00723 | Non-epidermolytic palmoplantar keratoderma | Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the ... | Congenital malformation | |
| H00724 | White sponge nevus | White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed ... | Congenital malformation | |
| H00725 | Short QT syndrome | Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ... | Cardiovascular disease | |
| H00726 | Meesmann corneal dystrophy | Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic ... | Nervous system disease | |
| H00727 |
Athabascan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome |
Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac ... | Congenital malformation | |
| H00728 | Brugada syndrome | The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based ... | Cardiovascular disease | |
| H00729 |
Sick sinus syndrome Sinus node dysfunction |
Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness ... | Cardiovascular disease | |
| H00730 | Familial idiopathic ventricular fibrillation | Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found that a novel SCN5A missense mutation causes the ... | Cardiovascular disease | |
| H00731 | Atrial fibrillation | Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis ... | Cardiovascular disease | |
| H00732 | Sorsby fundus dystrophy | Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of ... | Nervous system disease | |
| H00733 | Harlequin ichthyosis | Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion ... | Congenital malformation | |
| H00734 | Autosomal recessive congenital ichthyosis | Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... | Congenital malformation | |
| H00735 | Ichthyosis vulgaris | Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin ... | Congenital malformation | |
| H00736 |
Dorfman-Chanarin syndrome Chanarin-Dorfman syndrome |
Chanarin-Dorfman syndrome (CDS), also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ... | Inherited metabolic disorder | |
| H00737 | Peeling skin syndrome | Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) ... | Congenital malformation | |
| H00738 |
Ichthyosis with confetti Congenital reticular ichthyosiform erythroderma Ichthyosis variegata |
Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches ... | Congenital malformation | |
| H00739 | Ichthyosis with hypotrichosis | Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in ... | Congenital malformation | |
| H00740 | Ichthyosis follicularis, alopecia, and photophobia syndrome | Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia ... | Congenital malformation | |
| H00741 | Ichthyosis prematurity syndrome | Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease ... | Congenital malformation | |
| H00742 |
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) |
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present ... | Congenital malformation | |
| H00743 | Paramyotonia congenita | Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in ... | Nervous system disease; Musculoskeletal disease | |
| H00744 |
Potassium-aggravated myotonia Sodium channel myotonia |
Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with ... | Nervous system disease; Musculoskeletal disease | |
| H00745 | Hyperkalemic periodic paralysis | The periodic paralyses are a group of autosomal-dominant disorders of skeletal muscle sodium, potassium, and calcium channel genes. They are characterized by episodes of muscle weakness associated with ... | Nervous system disease; Musculoskeletal disease | |
| H00746 | Hypokalemic periodic paralysis | Hypokalemic periodic paralysis (HOKPP) is a member of periodic paralyses, an autosomal dominant genetic disorders caused by mutations in the sodium and calcium channel genes in skeletal muscle. In general ... | Nervous system disease; Musculoskeletal disease | |
| H00747 | Thyrotoxic hypokalemic periodic paralysis | Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often ... | Nervous system disease; Musculoskeletal disease | |
| H00748 | Andersen-Tawil syndrome | Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis ... | Congenital malformation | |
| H00749 | Episodic ataxias | Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the ... | Nervous system disease | |
| H00750 | Keratosis pilaris atrophicans | Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF) ... | Congenital malformation | |
| H00751 |
Asphyxiating thoracic dystrophy Jeune syndrome |
Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and ... | Congenital malformation | |
| H00752 | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme ... | Congenital malformation | |
| H00753 | Urofacial syndrome | The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients ... | Congenital malformation | |
| H00754 | 3-Methylglutaconic aciduria | 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have ... | Inherited metabolic disorder | |
| H00755 | Acrokeratosis verruciformis | Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ... | Congenital malformation | |
| H00756 | Pitt-Hopkins syndrome | Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... | Congenital malformation | |
| H00757 | Dyggve-Melchior-Clausen disease | Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened ... | Congenital malformation | |
| H00758 |
Progressive pseudorheumatoid dysplasia Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) |
Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that ... | Congenital malformation | |
| H00759 | Waardenburg syndrome | Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been ... | Inherited metabolic disorder | |
| H00760 | Spondyloepiphyseal dysplasia tarda | X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood ... | Congenital malformation | |
| H00761 |
SEMD, Pakistani type Brachyolmia type 4 |
Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy ... | Congenital malformation | |
| H00762 |
Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type |
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood ... | Congenital malformation |
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