Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cheilognathouranoschisis |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cheilognathopalatoschisis |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft of hard palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Median cleft lip and cleft of alveolar process of maxilla |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary adenocarcinoma of palate (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft hard and soft palate with cleft lip |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft of soft palate and bilateral cleft lip (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft of soft palate and cleft lip (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Bamforth Lazarus syndrome |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
syndrome d'Okamoto |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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. |
Finding site |
False |
Palatal structure |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft uvula |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Submucous cleft of hard palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete bilateral cleft palate (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cheilognathoschisis |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft of primary palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral cleft of primary palate (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft hard palate with cleft lip, bilateral |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Cleft hard palate, central |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft hard palate, bilateral |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete cleft hard and soft palate (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft of soft palate (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft soft palate, bilateral |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complete cleft of soft palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete cleft of soft palate (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Occult submucous cleft palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Central incomplete cleft palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Uranoplasty for cleft palate repair (procedure) |
Procedure site - Direct (attribute) |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephalus cleft palate syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lethal omphalocele with cleft palate syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
syndrome d'Okamoto |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bamforth Lazarus syndrome |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft palate and bilateral cleft lip |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft uvula |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cheilognathoprosoposchisis |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Zlotogora Ogur syndrome |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lethal omphalocele with cleft palate syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral incomplete cleft palate with cleft lip |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Abruzzo Erickson syndrome |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
Finding site |
False |
Palatal structure |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate and bilateral cleft lip |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft of soft palate and bilateral cleft lip (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cleft of hard palate |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cleft of soft palate and cleft lip (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
XY type gonadal dysgenesis with associated anomalies syndrome |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Palatal impaction |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with left cleft lip |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with right cleft lip |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Submucous cleft palate |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft palate, large ears, small head syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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. |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked cleft palate and ankyloglossia (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-palato-digital syndrome, type I |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oto-palato-digital syndrome, type II |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Otopalatodigital syndrome |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Otopalatodigital syndrome |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pilotto syndrome |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Zlotogora Ogur syndrome |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Incomplete bilateral cleft palate (disorder) |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral incomplete cleft palate with cleft lip |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome d'Okamoto |
Finding site |
False |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with right cleft lip |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-palato-digital syndrome, type II |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cleft palate with short stature and vertebral anomaly syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Finding site |
True |
Palatal structure |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-palato-digital syndrome, type I |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
XY type gonadal dysgenesis with associated anomalies syndrome |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Finding site |
True |
Palatal structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |