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Entry Name Description Category Pathway
H00604 Deafness, autosomal dominant Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... Nervous system disease
H00605 Deafness, autosomal recessive Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... Nervous system disease
H00606 Early infantile epileptic encephalopathy
Ohtahara syndrome
Early infantile epileptic encephalopathy (EIEE) is characterized by frequent tonic spasms of early onset within a few months of life, and a suppression-burst pattern in electroencephalography (EEG). Many ... Nervous system diseases hsa04723 Retrograde endocannabinoid signaling
hsa04727 GABAergic synapse
hsa04724 Glutamatergic synapse
hsa04728 Dopaminergic synapse
hsa04726 Serotonergic synapse
H00607 46,XY gonadal dysgenesis Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial ... Reproductive system disease
H00608 46,XY disorder of sex development due to testosterone secretion defect 46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures ... Reproductive system disease hsa00140 Steroid hormone biosynthesis
H00609 Persistent Mullerian duct syndrome Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either ... Reproductive system disease hsa04060 Cytokine-cytokine receptor interaction
hsa04350 TGF-beta signaling pathway
H00610 Treacher Collins syndrome Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes ... Ribosomopathy hsa03008 Ribosome biogenesis in Eukaryotes
hsa03020 RNA polymerase
H00611 Popliteal pterygium syndrome (PPS) Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing ... Congenital malformation
H00612 Primary open angle glaucoma
Glaucoma 1
Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive ... Nervous system disease hsa03008 Ribosome biogenesis in eukaryotes
H00613 Infantile cortical hyperostosis
Caffey disease
Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ... Musculoskeletal disease
H00614 Hyaline fibromatosis syndrome Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with ... Musculoskeletal disease
H00615 Amelogenesis imperfecta Amelogenesis imperfecta represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to ... Mouth and dental disease
H00616 Bowen-Conradi syndrome Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the ... Ribosomopathy hsa03008 Ribosome biogenesis in Eukaryotes
H00617 Desmosterolosis Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ... Congenital malformation hsa00100 Steroid biosynthesis
hsa01100 Metabolic pathways
H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia ... Mouth and dental disease
H00619 Kenny-Caffey syndrome Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections ... Congenital malformation
H00620 Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of ... Congenital malformation hsa04350 TGF-beta signaling pathway
H00621 Alopecia neurologic defects and endocrinopathy syndrome
ANE syndrome
Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied ... Ribosomopathy hsa03008 Ribosome biogenesis in Eukaryotes
H00622 Hypoparathyroidism-retardation-dysmorphism syndrome
Sanjad-Sakati syndrome
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia ... Congenital malformation
H00623 Hajdu-Cheney syndrome Hajdu-Cheney Syndrome is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed ... Musculoskeletal disease hsa04330 Notch signaling pathway
H00624 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The ... Digestive system disease hsa04976 Bile secretion
hsa04979 Cholesterol metabolism
hsa04530 Tight junction
H00625 Tooth agenesis
Tooth agenesis, or hypodontia/origodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... Mouth and dental disease hsa04310 Wnt signaling pathway
H00626 Focal segmental glomerulosclerosis Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting ... Urinary system disease
H00627 Premature ovarian failure Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... Reproductive system disease hsa04913 Ovarian steroidogenesis
H00628 Congenital bile acid synthesis defect Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in ... Congenital disorder of metabolism hsa00120 Primary bile acid biosynthesis
hsa00140 Steroid hormone biosynthesis
hsa04146 Peroxisome
H00629 Acheiropodia Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and ... Congenital malformation
H00630 Rheumatoid arthritis Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular ... Autoimmune disease hsa05323 Rheumatoid arthritis
H00631 Cornelia de Lange syndrome Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients ... Congenital malformation hsa04110 Cell cycle
hsa04114 Oocyte meiosis
H00632 Heterotaxy
Situs ambiguus
Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations ... Congenital malformation hsa04350 TGF-beta signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
H00633 Duane retraction syndrome Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of ... Nervous system disease
H00634 Duane-radial ray syndrome
Okihiro syndrome
Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper ... Congenital malformation
H00635 Aniridia Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of ... Congenital malformation
H00636 Tetra-amelia Tetra-amelia is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital ... Congenital malformation hsa04310 Wnt signaling pathway
H00637 Ulnar-mammary syndrome
Schinzel syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary ... Congenital malformation
H00638 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome
EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the ... Congenital malformation
H00639 Ectodermal dysplasia, ectrodactyly, and macular dystrophy
EEM syndrome
Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis ... Congenital malformation hsa04514 Cell adhesion molecules
H00640 Limb-mammary syndrome Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients ... Congenital malformation
H00641 ADULT syndrome ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of ... Congenital malformation
H00642 Lacrimo-auriculo-dento-digital syndrome
LADD syndrome
Levy-Hollister syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterizd by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness ... Congenital malformation hsa04010 MAPK signaling pathway
hsa04144 Endocytosis
hsa04810 Regulation of actin cytoskeleton
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
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