Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Bilateral complete and incomplete cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Familial median cleft of upper and lower lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Abruzzo Erickson syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Ablepharon macrostomia syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalus cleft palate syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lethal omphalocele with cleft palate syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Kapur Toriello syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
syndrome d'Okamoto |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pai syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Bamforth Lazarus syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Midline cleft of lower lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. |
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) |
3 |
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) |
3 |
Cleft lip retinopathy syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Zlotogora Ogur syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft hard and soft palate |
Associated morphology |
False |
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) |
4 |
Cleft of hard palate and cleft lip (disorder) |
Associated morphology |
False |
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) |
4 |
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) |
3 |
Right cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Left cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Holzgreve syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Ankyloblepharon filiforme adnatum with cleft palate syndrome |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Complete cleft of hard palate |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete cleft palate (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bifid nose (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate and bilateral cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Bilateral cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Incomplete bilateral cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cheilognathoschisis |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Complete bilateral cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Incomplete cleft hard and soft palate (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Complete cleft hard and soft palate (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Orofacial cleft |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pilotto syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Submucous cleft palate |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Central cleft of soft palate (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate, large ears, small head syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Complete left cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complete right cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete right cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete left cleft lip (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked cleft palate and ankyloglossia (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital left sided macrostomia |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital macrostomia of right side of mouth (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft hard and soft palate with cleft lip |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Distal arthrogryposis type 3 (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Distal arthrogryposis type 3 (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital sagittal cleft of vertebra (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral split foot |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral split foot |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral split hand |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral split hand |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbosacral spina bifida aperta with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbosacral spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lumbosacral spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lumbosacral spina bifida aperta with hydrocephalus |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Laryngeal cleft type 0 |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral congenital macrostomia |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Thoracolumbosacral spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracolumbosacral spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thoracolumbosacral spina bifida aperta |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spina bifida aperta of upper thoracic spine (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lumbar spina bifida with hydrocephalus - open |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Holorachischisis |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Rachischisis partialis (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thoracolumbar spina bifida without hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thoracolumbar spina bifida with hydrocephalus - closed |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Myelocele |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Meningomyelocele of lumbosacral spine (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft of right hard palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft of right hard palate (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft of left hard palate |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft of left hard palate |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complete cleft of right hard and soft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete cleft of right hard and soft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complete cleft of right hard and soft palate (disorder) |
Associated morphology |
False |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Complete cleft of left hard and soft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Complete cleft of left hard and soft palate (disorder) |
Associated morphology |
True |
Developmental failure of fusion (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |