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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00643 |
Tooth and nail syndrome Witkop syndrome |
Witkop syndrome, also known as tooth and nail syndrome, is a form of ectodermal dysplasia manifested by hypodontia and nail dysplasia. Several teeth are congenitally missing and nails are spoon-shaped ... | Congenital malformation | |
| H00644 | Ectodermal dysplasia/skin fragility syndrome | Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms ... | Congenital malformation | |
| H00645 | Incontinentia pigmenti | Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis mostly affecting females. Cutaneous manifestations are present along the lines of Blaschko and are subdivided into four stages: vesicular ... | Congenital malformation | |
| H00646 | Odontoonychodermal dysplasia | Odontoonychodermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles. | Congenital malformation | |
| H00647 | Ectodermal dysplasia-syndactyly syndrome | Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly ... | Congenital malformation | |
| H00648 |
Ectodermal dysplasia, Clouston type Clouston syndrome |
Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles ... | Congenital malformation | |
| H00649 | Ectodermal dysplasia, hair-nail type | Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously ... | Congenital malformation | |
| H00650 |
Allan-Herndon-Dudley syndrome Monocarboxylate transporter 8 deficiency |
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by ... | Endocrine and metabolic disease | |
| H00651 | Hypohidrotic ectodermal dysplasia | Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused ... | Congenital malformation | |
| H00652 | Solitary median maxillary central incisor syndrome | Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense ... | Congenital malformation | |
| H00653 | Marfan syndrome | Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations ... | Congenital malformation | |
| H00654 | Barth syndrome | Barth syndrome is a rare X-linked recessive disorder of infancy characterized by myopathy, cardiomyopathy [DS:H00294], cyclic neutropenia, short stature, low cholesterol, and mitochondrial abnormalities ... | Inherited metabolic disorder | |
| H00655 | McLeod syndrome | McLeod syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late ... | Nervous system disease | |
| H00656 | Scapuloperoneal myopathy | Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic ... | Nervous system disease; Musculoskeletal disease | |
| H00657 | Reducing body myopathy | Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which ... | Nervous system disease; Musculoskeletal disease | |
| H00658 |
X-linked syndromic intellectual developmental disorder Syndromic X-linked mental retardation |
X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... | Mental and behavioural disorder | |
| H00659 | Shprintzen-Goldberg syndrome | Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular ... | Congenital malformation | |
| H00660 |
Congenital contractural arachnodactyly Beals syndrome |
Congenital contractural arachnodactyly (CCA) or Beals syndrome is an autosomal dominant disorder characterized by a Marfan-like appearance and arachnodactyly. Most affected individuals have 'crumpled' ... | Congenital malformation | |
| H00661 | MASS phenotype | MASS Phenotype (Mitral valve prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 ... | Congenital malformation | |
| H00662 | Ectopia lentis | Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is ... | Congenital malformation | |
| H00663 | Restrictive dermopathy | Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple ... | Congenital malformation | |
| H00664 | Anemia due to disorders of glycolytic enzymes | Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with ... | Hematologic disease | |
| H00665 | Mandibuloacral dysplasia | Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected ... | Congenital malformation | |
| H00666 | Peutz-Jeghers syndrome | Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion ... | Digestive system disease | |
| H00667 | Woolly hair | Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly ... | Congenital malformation | |
| H00668 | Anemia due to disorders of glutathione metabolism | Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency ... | Hematologic disease | |
| H00669 | Naxos disease | Naxos disease (NXD) is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy ... | Congenital malformation | |
| H00670 | Monilethrix | Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific ... | Congenital malformation | |
| H00671 | Netherton syndrome | Netherton syndrome is a rare autosomal recessive genodermatosis consisting of erythroderma, ichthyosis linearis circumflexa, and hair shaft abnormalities with a bamboo shoot appearance (trichorrhexis invaginata) ... | Congenital malformation | |
| H00672 | Pseudofolliculitis barbae | Pseudofolliculitis barbae is a common skin disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the ... | Skin disease | |
| H00673 | Weill-Marchesani syndrome | Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of ... | Congenital malformation | |
| H00674 | Anemia due to disorders of nucleotide metabolism | Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan | Hematologic disease | |
| H00675 | Acrocapitofemoral dysplasia | Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped ... | Congenital malformation | |
| H00676 | Congenital primary aphakia | Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in ... | Congenital malformation | |
| H00677 | Aplasia of lacrimal and salivary glands | Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable ... | Congenital malformation | |
| H00678 |
Achondrogenesis type IA Achondrogenesis, Houston-Harris type |
Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage ... | Congenital malformation | |
| H00679 |
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD) |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | Inherited metabolic disorder | |
| H00680 | Primary failure of tooth eruption | Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE. | Digestive system disease | |
| H00681 |
Acne inversa Hidradenitis suppurativa |
Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include ... | Skin disease | |
| H00682 |
Woodhouse-Sakati syndrome Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations ... | Congenital malformation |
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