| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Chondrodysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Familial expansile osteolysis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Bent bone dysplasia group |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Craniodiaphyseal dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Melorheostosis (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Chondroectodermal dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Metaphyseal chondrodysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Kniest-Stickler-dysplasigruppe |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Leri's pleonosteosis syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A very rare syndrome characterized by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Greig cephalopolysyndactyly syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Idiopathic multicentric osteolysis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteosclerosis - Stanescu type |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Craniometaphyseal dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteopoikilosis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Achondrogenesis, type IA |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dysosteosclerosis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Epiphyseal dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hypochondroplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Defects of the tubular (and flat) bones and/or axial skeleton |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondyloepimetafyseal dysplasi med løshed i led |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Dyschondrosteosis and nephritis syndrome |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Boomerang dysplasia |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteogenesis imperfecta |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Desbuquois syndrome (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Nievergelt's syndrome |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Leri-Weill dyschondrosteosis |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Langer mesomelic dysplasia syndrome |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Pseudodiastrophic dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Diastrophic dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hypoplastic chondrodystrophy |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia - Sutcliffe type |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Spondylometaphyseal dysplasia Czarny Ratajczak type |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare type of spondylometaphyseal dysplasia with characteristics of metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital spondylolisthesis |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Fibrous dysplasia of bone |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Atelosteogenesis type 2 |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Brakyraki |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Saldino-Mainzer dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Francois syndrome (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Neonatal osteosclerotic dysplasia (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Hydromyelocele |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Seckel syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Cutis laxa, x-linked |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Lipomyelomeningocele |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital coronal cleft of vertebra (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Lethal Kniest-like syndrome |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Kniest dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Kniest-Stickler dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital anomaly of patella (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Pygopagus |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital dysplasia of bone caused by drug |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital sagittal cleft of vertebra (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Multiple congenital defects of vertebral segmentation |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Mesomelic dysplasia of upper limb (disorder) |
Is a |
False |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Osteoglophonic dysplasia |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Supernumerary bone of foot (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| Congenital deformity of bone of forearm (disorder) |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
| A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. |
Is a |
True |
Congenital anomaly of skeletal bone |
Inferred relationship |
Some |
|
FHIR