Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cleft palate and bilateral cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft of soft palate and bilateral cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft of soft palate and bilateral cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft of soft palate and bilateral cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft of soft palate and cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft of soft palate and cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft of soft palate and cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Coloboma of choroid (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Midline cleft of lower lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Auricular abnormality, cleft lip, ocular abnormality syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nasopalpebral lipoma coloboma syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft lip retinopathy syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Congenital hypoplasia of ulna and split foot syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
XY type gonadal dysgenesis with associated anomalies syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
XY type gonadal dysgenesis with associated anomalies syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital chorioretinal coloboma of left eye (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital chorioretinal coloboma of right eye (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myelomeningocele and hydrocephalus |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Fundus coloboma (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coloboma of choroid (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital chorioretinal coloboma of right eye (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital chorioretinal coloboma of left eye (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital chorioretinal coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital coloboma of macula lutea (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft upper lip, upper jaw AND palate |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft upper lip, upper jaw AND palate |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Renal coloboma syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Renal coloboma syndrome (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Repair of cleft hand |
Direct morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Closure of cleft hand |
Direct morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Repositioning of thumb for cleft hand |
Direct morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft hard palate with left cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hard palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft hard palate with right cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft soft palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft soft palate with left cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft soft palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft soft palate with right cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hard and soft palate with left cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hard and soft palate with left cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard and soft palate with left cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard and soft palate with right cleft lip (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hard and soft palate with right cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard and soft palate with right cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft palate with left cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with left cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft palate with right cleft lip |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with right cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Haemodynamically insignificant ventricular septal defect |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |