Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Complex craniosynostosis |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Simple craniosynostosis (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cloverleaf skull syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Saethre-Chotzen syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Schprintzen |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Unicoronal craniosynostosis |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cloverleaf skull syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Saethre-Chotzen syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Schprintzen |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Unicoronal craniosynostosis |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fronto-parietal craniofaciosynostosis |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Interfrontal craniofaciosynostosis (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spheno-fronto-parietal craniofaciosynostosis |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Parieto-occipital craniosynostosis |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniosynostosis syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Antley-Bixler syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Interparietal craniosynostosis (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fronto-malar faciosynostosis (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrocephalosyndactyly type I |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Carpenter's syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Crouzon syndrome with acanthosis nigricans (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Baller-Gerold syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cutis gyrata syndrome of Beare and Stevenson (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrocephalosyndactyly |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrocephalopolysyndactyly type II |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acrocephalopolysyndactyly (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrocephalopolysyndactyly type III (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrocephalosyndactyly |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrocephalopolysyndactyly type III (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrocephalopolysyndactyly type II |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrocephalopolysyndactyly (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Jackson-Weiss syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Imperfect fusion of skull |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Antley-Bixler syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Structure of vomero-premaxillary suture |
Is a |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Holoprosencephaly craniosynostosis syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pseudoaminopterin syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Craniosynostosis and intracranial calcification syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Craniosynostosis Philadelphia type (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniosynostosis Boston type (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Craniofacial dyssynostosis syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Hunter McAlpine craniosynostosis syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lowry MacLean syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Goodman-Syndrom |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
syndrome de Summitt |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
SCARF syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Craniosynostosis Herrmann Opitz type (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
synostose lambdoïde familiale |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hunter McAlpine craniosynostosis syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Shprintzen Goldberg craniosynostosis syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome de Summitt |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Crouzon syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pseudoaminopterin syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Holoprosencephaly craniosynostosis syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrocephalosyndactyly type I |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Crouzon syndrome with acanthosis nigricans (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniosynostosis and intracranial calcification syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Baller-Gerold syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Goodman-Syndrom |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniosynostosis with facial dysmorphism and brachydactyly syndrome |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniosynostosis Boston type (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Jackson-Weiss syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
SCARF syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lowry MacLean syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniosynostosis and dental anomalies syndrome |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) |
Finding site |
False |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Craniorhiny (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dolichocephalic dwarfism (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Long narrow head (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sutures touching without overlapping |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reducible suture overlap |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fixed suture overlap |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pfeiffer syndrome type 1 (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pfeiffer syndrome type 2 |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pfeiffer syndrome type 3 (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) |
Finding site |
True |
Joint structure of suture of skull |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |