Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Bilateral congenital deformity of lower limbs |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital deformity of bilateral fingers (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital deformity of bilateral fingers (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital deformity of right finger |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital deformity of right upper limb (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital deformity of left finger |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital deformity of right lower limb |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital anomaly of cardiac chamber (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) |
Associated morphology |
False |
anomalie du développement |
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 |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alstrom syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, congenital, vascular anomaly syndrome characterised by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and oedematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalic primordial dwarfism Montreal type |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterised by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia, cryptorchidism), as well as anal anomalies such as anal atresia and rectovesical fistula. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete ossification of ilium |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete ossification of ischium |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete ossification of pubis |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lack of ossification of pubis |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Incomplete ossification of bone (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lack of ossification of ischium |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital left vesicoureterorenal reflux |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital left vesicoureterorenal reflux |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital right vesicoureterorenal reflux |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital right vesicoureterorenal reflux |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, genetic, multiple congenital anomalies syndrome characterised by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nijmegen breakage syndrome-like disorder |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neuhauser anomaly |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Trichoodontoonychial dysplasia |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trichoodontoonychial dysplasia |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Trichoodontoonychial dysplasia |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Radio-renal syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital occlusion of anus |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Otopalatodigital syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Otopalatodigital syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hereditary benign acanthosis nigricans (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Darier disease |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acral Darier's disease (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Palmar pitting due to Darier disease (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
22q11.2 deletion syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital instability of right hip joint (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrokeratosis verruciformis of Darier disease |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital instability of left hip joint (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Flexural Darier's disease (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypertrophic Darier's disease (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Linear/nevoid/zosteriform Darier's disease (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary benign acanthosis nigricans with insulin resistance |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lipomeningocele (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anterior crossbite with destruction of oral mucosa |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Primary tethered cord syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary tethered cord syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
14q22q23 microdeletion syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Jawad syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
14q22q23 microdeletion syndrome |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Jawad syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Modified Johanson operation for claw toe with arthrodesis |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Repair of claw toe (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Correction of congenital deformity of hindfoot (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary correction of congenital deformity of foot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Release of pantalar joints for correction congenital deformity of foot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
McCauley operation |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Soft tissue release for correction of congenital deformity of hindfoot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Posterior release of joints of foot for correction of congenital deformity of foot (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Posteromedial release of calcaneotalar equinovarus (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lateral release for congenital deformity of foot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Correction of congenital vertical talus |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Release of subtalar joint for correction congenital deformity of foot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Correction of clubfoot (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tendon transfer and arthrodesis to correct claw toe |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Turco operation |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteotomy of body of os calcis for correction congenital deformity of foot (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Separation of tarsal coalition (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Triple arthrodesis for correction of congenital deformity of foot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary correction of clubfoot (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Medial release of joints of foot for correction of congenital deformity of foot (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dilwyn Evans procedure for correction of clubfoot |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gelman operation |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intrauterine fetal defect correction |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reduction of congenital hip dislocation by traction |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of left tarsus (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of bilateral tarsals (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Juvenile osteochondrosis of right tarsus (disorder) |
Associated morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Radialization correction for radial club hand |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Correction of congenital deformity of forearm (procedure) |
Direct morphology |
False |
anomalie du développement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |