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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00443 |
Osteoglophonic dysplasia Osteoglophonic dwarfism |
Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported. | Congenital malformation | |
| H00444 | Osteopathia striata with cranial sclerosis | Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition ... | Congenital malformation | |
| H00445 | Osteoarthritis with mild chondrodysplasia | Osteoarthritis with mild chondrodysplasia (OSCDP) is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen ... | Congenital malformation | |
| H00446 | Craniofacial-deafness-hand syndrome | Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant or X-linked mutation characterized by a flat facial profile, hypoplastic nose, and a sensorineural hearing loss. A missense mutation ... | Congenital malformation | |
| H00447 |
HEM skeletal dysplasia Greenberg dysplasia |
Hydrops ectopic calcification-moth-eaten (HEM) or Greenberg skeletal dysplasia is a lethal chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. It is ... | Congenital malformation | |
| H00448 |
Familial osteochondritis dissecans Osteochondritis dissecans, short stature, and early-onset osteoarthritis |
Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous ... | Musculoskeletal disease | |
| H00449 | Oculodentodigital dysplasia | Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant ... | Congenital malformation | |
| H00450 |
Worth type autosomal dominant osteosclerosis Endosteal hyperostosis |
Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease ... | Congenital malformation | |
| H00451 | Osteoporosis-pseudoglioma syndrome | Osteoporosis-pseudoglioma syndrome (OPPG) is inherited as an autosomal recessive condition and is characterized by severe congenital osteoporosis with blindness. Mutations in LRP5 cause OPPG. | Congenital malformation | |
| H00452 |
Buschke-Ollendorff syndrome Osteopoikilosis |
Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein ... | Congenital malformation | |
| H00453 |
Branchio-oto-renal syndrome BOR syndrome |
Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome ... | Congenital malformation | |
| H00454 |
Oral-facial-digital syndrome Orofaciodigital syndrome |
Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 ... | Congenital malformation | |
| H00455 | Spinal muscular atrophy | Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by ... | Neurodegenerative disease | |
| H00456 | Fronto-otopalatodigital syndromes | Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked ... | Congenital malformation | |
| H00457 | Primary hypertrophic osteoarthropathy | Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene ... | Musculoskeletal disease | |
| H00458 | Syndromic craniosynostoses | Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... | Congenital malformation | |
| H00459 | Synpolydactyly | Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation showing digit duplication and webbing of third and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly ... | Congenital malformation | |
| H00460 | Hand-foot-genital syndrome | Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract. | Congenital malformation | |
| H00461 |
Ischiocoxopodopatellar syndrome Coxopodopatellar syndrome Small patella syndrome Scott-Taor syndrome |
Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients | Congenital malformation | |
| H00462 | Stuve-Wiedemann syndrome | Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease. | Congenital malformation | |
| H00463 | Currarino syndrome | Currarino syndrome is a condition characterized by the combination of sacral malformation, hindgut anomaly, and presacral mass. The HLXB9 gene is responsible for the syndrome. | Congenital malformation | |
| H00464 | Nail-patella syndrome | Nail-patella syndrome is a condition caused by mutation in LMX1B that regulates COL4A4 and COL4A3 expression. The most common associated abnormality is nail dysplasia. | Congenital malformation | |
| H00465 | Fragile X syndrome | Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating ... | Chromosomal abnormality | |
| H00466 |
Grebe dysplasia Acromesomelic dysplasia Hunter-Thompson type |
Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers ... | Congenital malformation | |
| H00467 |
Fibular hypoplasia and complex brachydactyly Du Pan syndrome Acromesomelic dysplasia 2B |
Fibular hypoplasia and complex brachydactyly (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported ... | Congenital malformation | |
| H00468 |
Acromesomelic dysplasia, Demirhan type Acromesomelic dysplasia with genital anomalies |
Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B. | Congenital malformation | |
| H00469 | Mitochondrial DNA depletion syndrome | Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00470 | Acromesomelic dysplasia, Maroteaux type | Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous ... | Congenital malformation | |
| H00471 | Split-hand/foot malformation | Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in ... | Congenital malformation | |
| H00472 |
Torg syndrome Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy |
Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are ... | Musculoskeletal disease | |
| H00473 | Mitochondrial complex I deficiency | Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00474 | Schneckenbecken dysplasia | Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with ... | Congenital malformation | |
| H00475 | Enlarged parietal foramina/cranium bifidum | Enlarged parietal foramina/cranium bifidum is characterised by oval defects in the parietal bones. It results from incomplete ossification of the parietal bones during development and is caused by ALX4 ... | Congenital malformation | |
| H00476 | Multiple epiphyseal dysplasia | Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2 ... | Congenital malformation | |
| H00477 | Pseudoachondroplasia | Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP. | Congenital malformation | |
| H00478 | Prader-Willi syndrome | Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally ... | Chromosomal abnormality | |
| H00479 | Metaphyseal dysplasias | Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in ... | Congenital malformation | |
| H00480 |
X-linked intellectual developmental disorder 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 | |
| H00481 | Cone-rod dystrophy and cone dystrophy | Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP) ... | Nervous system disease | |
| H00482 | Brachydactyly | Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx ... | Congenital malformation |
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