Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
CHST3-related skeletal dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Genochondromatosis type 2 (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Short rib polydactyly syndrome Saldino Noonan type |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Bone dysplasia lethal Holmgren type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Coxoauricular syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melhem Fahl syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Long thumb brachydactyly syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ectodermal dysplasia trichoodontoonychial type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ectodermal dysplasia trichoodontoonychial type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Oculodento-osseous dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non-ossifying fibroma |
Is a |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare, genetic bone disorder characterised by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Conductive deafness, ptosis, skeletal anomalies syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oculomaxillofacial dysostosis |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oro-facial digital syndrome type 13 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spondyloperipheral dysplasia with short ulna syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oro-facial digital syndrome type 12 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Oro-facial digital syndrome type 14 (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Oro-facial digital syndrome type 1 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Brachydactyly elbow wrist dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chondroectodermal dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniofaciofrontodigital syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Larsen-like osseous dysplasia, short stature syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepimetaphyseal dysplasia anauxetic type |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloperipheral dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Brachydactyly elbow wrist dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Brachydactyly elbow wrist dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chondroectodermal dysplasia with night blindness syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chondroectodermal dysplasia with night blindness syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Short stature homeobox related short stature (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Conductive deafness, ptosis, skeletal anomalies syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniofaciofrontodigital syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dyssegmental dysplasia Silverman Handmaker type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oculomaxillofacial dysostosis |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chondroectodermal dysplasia with night blindness syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oro-facial digital syndrome type 14 (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Dyssegmental dysplasia Silverman Handmaker type (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oro-facial digital syndrome type 1 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Trichodermodysplasia and dental alterations syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oro-facial digital syndrome type 12 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Oro-facial digital syndrome type 13 |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Curly hair, acral keratoderma, caries syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Trichodermodysplasia and dental alterations syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Odonto onycho dysplasia with alopecia syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dysplasia of left kidney |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia of right kidney (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cortical dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cortical dysplasia with hemimegalencephaly |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Localised cortical dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple epiphyseal dysplasia with miniepiphyses (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trichoodontoonychial dysplasia |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Carney complex, trismus, pseudocamptodactyly syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Carney complex, trismus, pseudocamptodactyly syndrome (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare syndrome characterised 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. |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia of lung |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital pulmonary acinar dysplasia (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Otopalatodigital syndrome |
Associated morphology |
False |
Congenital dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |