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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00483 | Angel shaped phalangoepiphyseal dysplasia | Angel shaped phalangoepiphyseal dysplasia (ASPED) is one type of osteochondrodysplasia characterized by angel shaped middle phalanges and generalized epiphyseal dysplasia that disproportionately affects ... | Congenital malformation | |
| H00484 | Multiple synostosis syndrome | Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional ... | Congenital malformation | |
| H00485 | Robinow syndrome | Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic ... | Congenital malformation | |
| H00486 | Sclerosteosis | Sclerosteosis is rare sclerosing bone dysplasias inherited in an autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings ... | Congenital malformation | |
| H00487 | Tricho-dento-osseous syndrome | Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone. | Congenital malformation | |
| H00488 |
MCAD deficiency Medium-chain acyl-CoA dehydrogenase deficiency ACADM deficiency |
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00489 |
LCHAD deficiency Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency |
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by ... | Inherited metabolic disorder, Mitochondrial disease | |
| H00490 |
Diaphyseal dysplasia with anemia Ghosal hematodiaphyseal dysplasia |
Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported. | Congenital malformation | |
| H00491 | Craniometaphyseal dysplasia | Craniometaphyseal dysplasia (CMD) is a rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones. Familial CMD is sub-classified based on its ... | Congenital malformation | |
| H00492 | SHOX-related short stature | Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to ... | Congenital malformation | |
| H00493 | Heparan sulfate proteoglycan gene defects | Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins ... | Congenital malformation | |
| H00494 |
Desbuquois syndrome Desbuquois dysplasia (DBQD) |
Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated ... | Congenital malformation | |
| H00495 | Eiken dysplasia | Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene. | Congenital malformation | |
| H00496 | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL ... | Congenital malformation | |
| H00497 | Cherubism | Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, ... | Digestive system disease | |
| H00498 | Gnathodiaphyseal dysplasia | Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones ... | Musculoskeletal disease | |
| H00499 | Spondylocarpotarsal synostosis syndrome | Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing ... | Congenital malformation | |
| H00500 | Keutel syndrome | Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported. | Congenital malformation | |
| H00501 |
Fibrous dysplasia, polyostotic McCune-Albright syndrome Albright hereditary osteodystrophy |
Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of ... | Congenital malformation | |
| H00502 | Pallister-Hall syndrome | Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused ... | Congenital malformation | |
| H00503 | Ellis-van Creveld syndrome | Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular ... | Congenital malformation | |
| H00504 | Rubinstein-Taybi syndrome | Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the ... | Congenital malformation | |
| H00505 | FGFR3-related short limb skeletal dysplasia | FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth. | Congenital malformation | |
| H00506 | Osteogenesis imperfecta | Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... | Congenital malformation | |
| H00507 | Dyskeratosis congenita | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... | Ribosomopathy | |
| H00508 |
Blomstrand syndrome Blomstrand chondrodysplasia |
Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation. | Congenital malformation | |
| H00509 | 3M syndrome | The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1. | Congenital malformation | |
| H00510 | Feingold syndrome | Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as ... | Congenital malformation | |
| H00511 | Short rib-polydactyly syndrome | Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened ... | Congenital malformation | |
| H00512 | Permanent neonatal diabetes mellitus | Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... | Endocrine and metabolic disease | |
| H00513 | Transient neonatal diabetes mellitus | Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... | Endocrine and metabolic disease | |
| H00514 | Bruck syndrome | Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing ... | Congenital malformation | |
| H00515 | Atelosteogenesis type II | Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 ... | Congenital malformation | |
| H00516 | Cleft lip and/or cleft palate | Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome ... | Congenital malformation | |
| H00517 | Spondylocostal dysostosis | Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation ... | Congenital malformation | |
| H00518 | Metaphyseal dysplasia without hypotrichosis | Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and ... | Ribosomopathy | |
| H00519 | Spondyloepiphyseal dysplasia congenita | Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies ... | Congenital malformation | |
| H00520 | Type II collagenopathies | Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by ... | Congenital malformation | |
| H00521 | Cleidocranial dysplasia | Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ... | Congenital malformation | |
| H00522 | Brachyolmia | Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective ... | Congenital malformation |
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