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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02448 | Harel-Yoon syndrome | Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that ... | Nervous system disease | |
| H02449 | Autosomal dominant lamellar ichthyosis | Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734] ... | Congenital malformation | |
| H02450 | Horizontal gaze palsy with progressive scoliosis | Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing ... | Nervous system disease | |
| H02451 | Congenital disorder of glycosylation with defective fucosylation | Congenital disorder of glycosylation with defective fucosylation (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose ... | Inherited metabolic disorder | |
| H02452 | Muscle hypertrophy | Muscle hypertrophy (MSLHP) is defined as an increase in muscle mass, as a result of an increase in the size of pre-existing muscle fibers. A myostatin mutation in a child with muscle hypertrophy has been ... | Musculoskeletal disease | |
| H02453 | Congenital heart defects and ectodermal dysplasia | Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal ... | Congenital malformation | |
| H02454 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations ... | Congenital malformation | |
| H02455 |
Congenital heart defects, hamartomas of tongue, and polysyndactyly Ostravik-Lindemann-Solberg syndrome |
Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the ... | Congenital malformation | |
| H02456 | Ectodermal dysplasia | Ectodermal dysplasias (ECTD) are a heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature ... | Congenital malformation | |
| H02457 | Developmental delay, leukoencephalopathy, and neurologic decompensation | Developmental delay, leukoencephalopathy, and neurologic decompensation is an autosomal dominant neurodevelopmental syndrome caused by missense mutations in EIF2AK1 and EIF2AK2. They encode members of ... | Nervous system disease | |
| H02458 |
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius X-linked hydrocephalus |
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It ... | Congenital malformation | |
| H02459 | Syndromic neurodevelopmental disorder | Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... | Congenital malformation | |
| H02460 | Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies | Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... | Congenital malformation | |
| H02461 | Neurodevelopmental disorder with microcephaly | Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... | Congenital malformation | |
| H02462 | Spondyloepiphyseal dysplasia | Spondyloepiphyseal dysplasia (SED) refers to a heterogeneous group of disorders with primary involvement of vertebrae and epiphyseal centers of long bones. Three major types of SED are recognized SED congenita ... | Congenital malformation | |
| H02463 | Syndromic intellectual developmental disorder | Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... | Mental and behavioural disorder | |
| H02464 | Poretti-Boltshauser syndrome | Poretti-Boltshauser syndrome (PTBHS) is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been ... | Congenital malformation | |
| H02465 | Weiss-Kruszka syndrome | Weiss-Kruszka syndrome is an autosomal dominant disorder characterized by craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. It has been reported that haploinsufficiency ... | Congenital malformation | |
| H02466 | Rajab interstitial lung disease with brain calcification | Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases ... | Respiratory system disease | |
| H02467 | Neonatal inflammatory skin and bowel disease | Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations ... | Immune system disease | |
| H02468 | Early childhood-onset progressive leukodystrophy | Early childhood-onset progressive leukodystrophy (PLDECO) is a rare autosomal recessive disorder caused by deficiency of the alkaline ceramidase. Mutations in the ACER3 gene result in inactivation of ACER3 ... | Inherited metabolic disorder | |
| H02469 | Cone-rod synaptic disorder | Cone-rod synaptic disorder (CRSD) is an autosomal recessive disorder caused by mutations in CABP4. CRSD is characterized by congenital nystagmus, stable low vision, photophobia, and a normal fundus appearance ... | Nervous system disease | |
| H02470 | Neurodevelopmental disorder with structural brain abnormalities | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | Congenital malformation | |
| H02471 | Brain malformations with urinary tract defects | Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors | Congenital malformation | |
| H02472 | Early-onset progressive encephalopathy | Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were ... | Nervous system disease | |
| H02473 |
Leukoencephalopathy, brain calcifications, and cysts Labrune syndrome |
Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal ... | Nervous system disease | |
| H02474 | Blepharocheilodontic syndrome | Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by ... | Congenital malformation | |
| H02475 | Retinoschisis | Retinoschisis (RS) is a retinal disorder with macular degeneration. In most cases, juvenile retinoschisis is transmitted as an X-linked recessive trait. The RS1 gene responsible for X-linked juvenile retinoschisis ... | Congenital malformation | |
| H02476 | Childhood-onset neurodegeneration with brain atrophy | Childhood-onset neurodegeneration with brain atrophy (CONDBA) is an autosomal dominant disorder characterized by developmental regression and neurodegeneration in childhood. It has been reported that mutations ... | Nervous system disease | |
| H02477 | Cohen-Gibson syndrome | Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive ... | Congenital malformation | |
| H02478 | CATIFA syndrome | CATIFA syndrome is a novel autosomal recessive syndrome characterized by cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, and ADHD. It has been reported that mutations ... | Congenital malformation | |
| H02479 | Nivelon-Nivelon-Mabille syndrome | Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures ... | Congenital malformation | |
| H02480 | Fontaine progeroid syndrome | Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding ... | Congenital malformation | |
| H02481 | Syndromic disorder with short stature | Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown ... | Congenital malformation | |
| H02482 | ROSAH syndrome | ROSAH syndrome is an autosomal dominant systemic disorder characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. It has been reported that mutations in ... | Congenital malformation | |
| H02483 | Basel-Vanagaite-Smirin-Yosef syndrome | Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability ... | Congenital malformation | |
| H02484 | X-linked reticulate pigmentary disorder with systemic manifestations | X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan ... | Immune system disease | |
| H02485 | Extraoral halitosis due to MTO deficiency | Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable ... | Inherited metabolic disorder | |
| H02486 | HELIX syndrome | HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome. | Skin disease | |
| H02487 | Diencephalic-mesencephalic junction dysplasia syndrome | Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial ... | Congenital malformation |
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