| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Oto-palato-digital syndrome, type I |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oculootoradial syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ballard syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Catel Manzke syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Skeletal dysplasia with intellectual disability syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Fuhrmann syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Osteocraniostenosis (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ichthyose-Hypotrichose-Syndrom |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe X-linked mitochondrial encephalomyopathy (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agnathia, holoprosencephaly, situs inversus syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Distal limb deficiency with micrognathia syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dyschondrosteose - Nephritis |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thickened earlobe with conductive deafness syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, developmental defect during embryogenesis disorder characterised by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Parastremmatic dwarfism (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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 |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Terminal osseous dysplasia and pigmentary defect syndrome (disorder) |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Muscular dystrophy Selcen type (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thoracolaryngopelvic dysplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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 |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Schimke immuno-osseous dysplasia |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Patterson Stevenson Fontaine syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Myopathy due to calsequestrin and SERCA1 protein overload |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Mitochondrial myopathy with sideroblastic anemia syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microspherophakia with metaphyseal dysplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Laryngeal abductor paralysis with intellectual disability syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypospadias, hypertelorism, coloboma, deafness syndrome |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial scaphocephaly syndrome McGillivray type (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cryptomicrotia brachydactyly syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Crisponi syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniolenticulosutural dysplasia (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital short costocoracoid ligament (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic osteodysplastic primordial dwarfism types I and III |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial Scheuermann disease (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Genochondromatosis type 2 (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short rib polydactyly syndrome Saldino Noonan type |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic paraplegia with Paget disease of bone syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Familial chondromalacia of patella (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature locking fingers syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Coxoauricular syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Bone dysplasia lethal Holmgren type (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniosynostosis fibular aplasia syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 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. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Symphalangism with multiple anomalies of hands and feet syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brachydactyly and distal symphalangism syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare congenital limb malformation characterised the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Congenital hypoplasia of ulna and split foot syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Camptobrachydactyly (disorder) |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Trigonocephaly, short stature, developmental delay syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Absent tibia, polydactyly, arachnoid cyst syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Banki syndrome (disorder) |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Triphalangeal thumb and dislocation of patella syndrome |
Is a |
True |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Camptodactyly taurinuria syndrome (disorder) |
Is a |
False |
Hereditary disorder of musculoskeletal system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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