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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02287 | Deafness, dystonia, and cerebral hypomyelination | Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. ... | Congenital malformation | |
| H02288 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (RDGCA) is an autosomal dominant retinal dystrophy with progressive loss of vision. It has been suggested that a missense ... | Nervous system disease | |
| H02289 | Retinal dystrophy with or without extraocular anomalies | Retinal dystrophy with or without extraocular anomalies (RDEOA) is an autosomal recessive retinal dystrophy caused by mutations in RCBTB1. In affected individuals, it was found to segregate with retinitis ... | Nervous system disease | |
| H02290 | Retinal dystrophy and iris coloboma with or without congenital cataract | Retinal dystrophy and iris coloboma with or without congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in ... | Nervous system disease | |
| H02291 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) is an early onset, progressive, and severe autosomal recessive retinitis pigmentosa. It is characterized by developmental abnormalities ... | Nervous system disease | |
| H02292 | Retinal dystrophy, juvenile cataracts, and short stature syndrome | Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental ... | Congenital malformation | |
| H02293 | Spastic paraplegia-psychomotor retardation-seizures syndrome | Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase ... | Nervous system disease | |
| H02294 | Tatton-Brown-Rahman syndrome | Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A ... | Congenital malformation | |
| H02295 | Adermatoglyphia | Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency ... | Congenital malformation | |
| H02296 |
Basan syndrome Ectodermal dysplasia absent dermatoglyphics |
Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures ... | Congenital malformation | |
| H02297 | CLAPO syndrome | CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth ... | Congenital malformation | |
| H02298 | Macrocephaly, dysmorphic facies, and psychomotor retardation | Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed ... | Congenital malformation | |
| H02299 | Arthrogryposis multiplex congenita | Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental ... | Congenital malformation | |
| H02300 | Steel syndrome | Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been ... | Congenital malformation | |
| H02301 |
Nephroblastoma Wilms tumor |
Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... | Cancer | |
| H02302 | Hepatoblastoma | Although malignant tumors of the liver are rare during childhood, hepatoblastoma is the most common liver cancer in children, usually diagnosed during the first 3 years of life. These tumors are thought ... | Cancer | |
| H02303 | Alopecia-mental retardation syndrome | Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental ... | Congenital malformation | |
| H02304 | Combined D-2- and L-2-hydroxyglutaric aciduria | Combined D-2- and L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by elevated levels of both D-2-hydroxyglutarate (HG) and L-2-HG in body fluids, mainly manifests in a severe neonatal epileptic ... | Inherited metabolic disorder | |
| H02305 |
RERE-related neurodevelopmental syndrome Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with ... | Mental and behavioural disorder | |
| H02306 | Chondrodysplasia with joint dislocations, GPAPP type | Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused ... | Congenital malformation | |
| H02307 | Muscular dystrophy-dystroglycanopathy | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder | |
| H02308 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory ... | Immune system disease | |
| H02309 | Adenosine deaminase deficiency | Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine ... | Immune system disease | |
| H02310 | Renal tubular acidosis | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... | Urinary system disease | |
| H02311 | Molybdenum cofactor deficiency | Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations ... | Inherited metabolic disorder | |
| H02312 | Glutathione synthetase deficiency | Glutathione synthetase deficiency (GSD) is a rare autosomal recessive disorder. The clinical phenotype varies widely, and nearly 30 different mutations in the GSS gene have been identified. In severe form ... | Inherited metabolic disorder | |
| H02313 | 5-Oxoprolinase deficiency | 5-Oxoprolinase deficiency is an extremely rare disorder of the gamma-glutamyl cycle, that represents the primary pathway for glutathione synthesis and degradation. Recently, the OPLAH mutation was reported ... | Inherited metabolic disorder | |
| H02314 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is ... | Endocrine and metabolic disease | |
| H02315 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and ... | Endocrine and metabolic disease | |
| H02316 | Adrenal insufficiency, NR5A1 related | NR5A1, also termed steroidogenic factor 1 (SF-1), is a nuclear receptor and a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. There are some known mutations ... | Endocrine and metabolic disease | |
| H02317 | SERKAL syndrome | SERKAL syndrome is an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused ... | Reproductive system disease | |
| H02318 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic ... | Reproductive system disease | |
| H02319 | IMAGE syndrome | IMAGE syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening ... | Endocrine and metabolic disease | |
| H02320 | Vacuolar myopathy with CASQ1 aggregates | Vacuolar myopathy with CASQ1 aggregates (VMCQA) is an autosomal dominant benign vacuolar myopathy and hyperCKemia. VMCQA is the protein aggregate myopathy with benign evolution and muscle inclusions composed ... | Musculoskeletal disease | |
| H02321 | Early-onset myopathy, areflexia, respiratory distress, and dysphagia | Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMRDD) is an autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, ... | Musculoskeletal disease | |
| H02322 |
Amyloidosis, Finnish type Meretoja syndrome Amyloid cranial neuropathy with lattice corneal dystrophy |
Amyloidosis, Finnish type (Meretoja syndrome) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. It is characterized by lattice corneal dystrophy [DS:H00956] ... | Nervous system disease | |
| H02323 | Ruijs-Aalfs syndrome | Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease. | Endocrine and metabolic disease | |
| H02324 | Sacral agenesis with vertebral anomalies | Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations ... | Congenital malformation | |
| H02325 | Schaaf-Yang syndrome | Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported ... | Congenital malformation | |
| H02326 |
Keipert syndrome Nasodigitoacoustic syndrome |
Keipert syndrome (KPTS) is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic ... | Congenital malformation |
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