Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Craniosynostosis Philadelphia type (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
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. |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Capra DeMarco syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Filippi syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Filippi syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Schilbach Rott syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Faciocardiorenal syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
STAR syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Saethre-Chotzen syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypotrichosis and intellectual disability syndrome Lopes type |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
STAR syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acardiacus anceps (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cryptodidymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Parasitic twin of asymmetrical conjoined twins |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acardius (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gastrothoracopagus dipygus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sirenomelus (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association. |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracodidymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monocephalus tripus dibrachius |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Syncephalus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Katadidymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Heterodymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cephalothoracopagus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Deradelphus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monocephalus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cryptodidymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Parasitic twin of asymmetrical conjoined twins |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anakatadidymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Omphaloangiopagus (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pygomelus (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Gastrothoracopagus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monocephalus tetrapus dibrachius |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracoparacephalus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pygodidymus (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autositic twin of asymmetrical conjoined twins (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cephalodymus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Polysomia (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Janiceps (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Polysyndactyly and cardiac malformation syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Polysyndactyly and cardiac malformation syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Janiceps (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Splenogonadal fusion |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Occipitalization of atlas (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Camptobrachydactyly (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Banki syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Duplication of eyebrow and syndactyly syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Duplication of eyebrow and syndactyly syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Goodman-Syndrom |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
syndrome de Summitt |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital chorioretinal coloboma of left eye (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital chorioretinal coloboma of right eye (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral webbed toes of both feet |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral webbed toes of both feet |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tibio-fibular synostosis (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of syndactyly |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Correction of syndactyly of fingers using skin graft |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Correction of syndactyly of fingers using skin expander |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Correction of complicated syndactyly |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Correction of syndactyly with skin flap |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Correction of syndactyly with skin flap and graft |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Repair of syndactyly with skin graft (procedure) |
Direct morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Isolated congenital syngnathia (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Syndactyly type 6 |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniodigital syndrome and intellectual disability syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Symbrachydactyly |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Symbrachydactyly of digit of hand |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
synostose lambdoïde familiale |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Crossed polysyndactyly (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hallux varus, preaxial polysyndactyly syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ectodermal dysplasia syndactyly syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Polysomia (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Duplication of eyebrow and syndactyly syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acropectoral syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome de Summitt |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Klippel-Feil sequence (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive non-infectious anterior vertebral fusion (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Constriction ring of upper limb with acrosyndactyly and amputation |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Saethre-Chotzen syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Simple syndactyly of toes second to fourth web |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral webbed toes of both feet |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrocephalosyndactyly type I |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
High assimilation pelvis |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Antley-Bixler syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Antley-Bixler syndrome |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thoracoparacephalus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Faciocardiorenal syndrome (disorder) |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gastrothoracopagus dipygus |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acrocephalopolysyndactyly type II |
Associated morphology |
False |
Congenital abnormal fusion |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |