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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02608 | Autoinflammatory-pancytopenia syndrome | Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis ... | Immune system disease | |
| H02609 | Craniodiaphyseal dysplasia | Craniodiaphyseal dysplasia (CDD) is an autosomal dominant sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism ... | Musculoskeletal disease | |
| H02610 | Head and neck squamous cell carcinoma | Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer in the world, affecting the pharynx, larynx and oral cavity. It is well known that smoking and alcohol abuse are major risk ... | Cancer | |
| H02611 | Turnpenny-Fry syndrome | Turnpenny-Fry syndrome (TPFS) is an extremely rare disease characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations ... | Congenital malformation | |
| H02612 | Radio-Tartaglia syndrome | Radio-Tartaglia syndrome (RATARS) is a syndromic neurodevelopmental disorder characterized by intellectual disability, hypotonia, behavior abnormalities, multiple congenital anomalies, and facial dysmorphisms ... | Congenital malformation | |
| H02613 | Brunet-Wagner neurodevelopmental syndrome | Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is a severe autosomal recessive disorder with infantile hypotonia, severe developmental delay, and microcephaly. It has been reported that bi-allelic ... | Congenital malformation | |
| H02614 | Snijders Blok-Campeau syndrome | Snijders Blok-Campeau syndrome (SNIBCPS) is a neurodevelopmental syndrome characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic ... | Congenital malformation | |
| H02615 | Parenti-Mignot neurodevelopmental syndrome | Parenti-Mignot neurodevelopmental syndrome (PMNDS) is a neurodevelopmental syndrome characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. It has been reported ... | Congenital malformation | |
| H02616 | Neurodevelopmental disorder with macrocephaly | Neurodevelopmental disorder with macrocephaly is a heterogeneous group of diseases. It has been reported that pathogenic variants in CHD3, CHD4, and GATAD2B are associated with this disease. They are components ... | Congenital malformation | |
| H02617 | Bryant-Li-Bhoj neurodevelopmental syndrome | Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB) is characterized by global developmental delay, short stature, failure to thrive, dysmorphic facial features, structural brain abnormalities, hypotonia ... | Congenital malformation | |
| H02618 | Developmental delay with variable intellectual disability and dysmorphic facies | Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) is a neurodevelopmental syndrome caused by mutations in JARID2. JARID2, which is expressed in human neurons, is a ... | Congenital malformation | |
| H02619 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents ... | Congenital malformation | |
| H02620 |
Autoinflammation with episodic fever and lymphadenopathy Cleavage-resistant RIPK1-induced autoinflammatory syndrome |
Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autoinflammatory disease caused by non-cleavable RIPK1 variants. Heterozygous mutations of the RIPK1 caspase-8 cleavage site have ... | Immune system disease | |
| H02621 |
X-linked systemic autoinflammatory disease NEMO deleted exon 5 autoinflammatory syndrome |
X-linked systemic autoinflammatory disease (SAIDX), also called NEMO deleted exon 5 autoinflammatory syndrome (NDAS), is a pediatric autoinflammatory syndrome caused by X-linked IKBKG germline mutations ... | Immune system disease | |
| H02622 | Shukla-Vernon syndrome | Shukla-Vernon syndrome (SHUVER) is a new X-linked syndrome characterized by variable degrees of intellectual disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that ... | Congenital malformation | |
| H02623 | Kury-Isidor syndrome | Kury-Isidor syndrome (KURIS) is a syndromic neurodevelopmental disorder caused by rare germline missense BAP1 variants. Nuclear deubiquitinase BAP1 is a core component of multiprotein complexes that promote ... | Congenital malformation | |
| H02624 | Tumor predisposition syndrome | Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated ... | Cancer | |
| H02625 | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome | Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) is a novel microcephalic primordial dwarfism disorder caused by mutations in PRIM1 encoding the catalytic subunit of DNA primase. PRIM1 ... | Congenital malformation | |
| H02626 | Kalamiella piersonii infection | Kalamiella piersonii is a urease-negative gram-negative bacterium belonging to the Erwiniaceae family. K. piersonii has been isolated from the urine of a struvite stone patient, which suggests that the ... | Bacterial infectious disease | |
| H02627 |
Epidermal nevus Sebaceous nevus |
Epidermal nevus is hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin. It is often present at birth or within the first few years of life. | Congenital malformation | |
| H02628 | Schimmelpenning-Feuerstein-Mims syndrome | Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes, and bones. | Congenital malformation | |
| H02629 | Bent bone dysplasia syndrome | Bent bone dysplasia syndrome (BBDS) is a congenital skeletal disorder characterized by bowed long bones within the limbs. It is usually lethal perinatally. | Congenital malformation | |
| H02630 | Chitayat syndrome | Chitayat syndrome is a rare condition characterized by bilateral hand hyperphalangism resulting in shortening and ulnar deviation of the index and sometimes third fingers, hallux valgus, mild facial dysmorphism ... | Congenital malformation | |
| H02631 | Melorheostosis | Melorheostosis (MEL) is a rare sclerosing hyperostosis characterized by asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations ... | Musculoskeletal disease | |
| H02632 | Houge-Janssens syndrome | Houge-Janssens syndrome (HJS) is PP2A-related neurodevelopmental disorder. PP2A enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development ... | Congenital malformation | |
| H02633 | Beck-Fahrner syndrome | Beck-Fahrner syndrome (BEFAHRS) is a neurodevelopmental syndrome that shows global developmental delay and/or intellectual disability and other neurological manifestations, growth abnormalities, and characteristic ... | Congenital malformation | |
| H02634 | Deafness, cataract, impaired intellectual development, and polyneuropathy | Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is a novel autosomal recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations ... | Nervous system disease | |
| H02635 | Poirier-Bienvenu neurodevelopmental syndrome | Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is associated with epilepsy, intellectual disability, and developmental delay. It has been reported that mutations in CSNK2B cause this syndrome. ... | Congenital malformation | |
| H02636 | Sinoatrial node dysfunction and deafness | Sinoatrial node dysfunction and deafness (SANDD) is a genetic disease characterized by a low heart beat and severe-to-profound deafness. A mutation of CACNA1D, encoding the Cav1.3 protein, has been identified ... | Cardiovascular disease; Nervous system disease | |
| H02637 | Brachycephaly, trichomegaly, and developmental delay | Brachycephaly, trichomegaly, and developmental delay (BTDD), also known as MacInnes syndrome, is a novel ribosomopathy. Mutations in RPS23 gene, which encodes a small ribosomal subunit, have been reported ... | Ribosomopathy | |
| H02638 | Zaki syndrome | Zaki syndrome is a novel structural syndrome characterized by multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects ... | Congenital malformation | |
| H02639 | Atelis syndrome | Atelis syndrome (ATELS) is a neurodevelopmental disease characterized by microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype ... | Congenital malformation | |
| H02640 | Vertebral hypersegmentation and orofacial anomalies | Vertebral hypersegmentation and orofacial anomalies (VHO) is a new orofacial clefting syndrome characterized by vertebral and rib hypersegmentation. It has been reported that mutations in GDF11 cause this ... | Congenital malformation | |
| H02641 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) is a condition characterized by multiple congenital abnormalities, which have been associated with mutations ... | Congenital malformation | |
| H02642 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | Retinal arterial macroaneurysm associated with supravalvular pulmonic stenosis (RAMSVPS) is a rare autosomal recessive condition caused by a splicing mutation in IGFBP7. Recently, two major biological ... | Nervous system disease | |
| H02643 | Lipoyltransferase 1 deficiency | Lipoyltransferase 1 deficiency (LIPT1D) is a fatal disease associated with encephalopathy and pulmonary hypertension. Mutations in LIPT1 gene cause this disease. LIPT1 encodes a mitochondrial lipoyltransferase ... | Inherited metabolic disorder | |
| H02644 | Alpha-aminoadipic and alpha-ketoadipic aciduria | Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. This disease is associated with varying neurological ... | Inherited metabolic disorder | |
| H02645 | Cerebellar atrophy with seizures and variable developmental delay | Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an early-onset epileptic encephalopathy. This disease is caused by mutations in CACNA2D2 that encodes an auxiliary subunit ... | Congenital malformation | |
| H02646 | Malignant hyperthermia | Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle most often associated with the administration of volatile general anesthetic agents and/or the muscle relaxant succinylcholine ... | Musculoskeletal disease | |
| H02647 | Macrodactyly | Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component ... | Congenital malformation |
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