Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Musculoskeletal structure of thumb |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Musculoskeletal structure of finger |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Bone structure of phalanx of hand |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 1 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 2 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 3 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 4 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 5 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 6 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly Wassel 7 |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Radial polydactyly |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Transverse arrest phalangeal level first ray |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Transverse arrest phalangeal level second ray |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Transverse arrest phalangeal level third ray |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Transverse arrest phalangeal level fourth ray |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Transverse arrest phalangeal level fifth ray |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Akrosyndaktyli i overekstremitet |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Clinodactyly with delta phalanx |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Clinodactyly, with no delta phalanx |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Congenital contractural arachnodactyly |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Dactylitis |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Macrodactyly of hand |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Brachydactyly of hand (disorder) |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Synbrakydaktyli i hånd |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Congenital clinodactyly |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Camptodactyly |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Congenital absence of all fingers |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Arachnodactyly |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Brachydactyly-all 3 phalanges |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Brachydactyly-missing phalanx |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Camptodactyly-little finger |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Kongenit manglende finger, ikke nærmere specificeret |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Brakydaktyli af fingre, uspecificeret |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Kamptodaktyli anden eller multipel |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Brachysyndactyly of thumb |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Finding of musculoskeletal structure of digit of hand |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
objektivt: araknodaktyli-hænder |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Akrosyndaktyli i overekstremitet |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Camptodactyly-little finger |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Brachydactyly-all 3 phalanges |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Camptodactyly |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Kamptodaktyli anden eller multipel |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Brakydaktyli af fingre, uspecificeret |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Synbrakydaktyli i hånd |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Brachydactyly of hand (disorder) |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Brachydactyly-missing phalanx |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Akrosyndaktyli i overekstremitet |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
4 |
Synbrakydaktyli i hånd |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Synbrakydaktyli i hånd |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
3 |
Brachydactyly-missing phalanx |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Brachydactyly-all 3 phalanges |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Acrosyndactyly of the fingers |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
3 |
Structure of phalanx of hand |
Is a |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
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 |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
7 |
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
4 |
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
6 |
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
9 |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
5 |
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
6 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
5 |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
7 |
Entire musculoskeletal system of digit of hand (body structure) |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Musculoskeletal structure of digit of left hand (body structure) |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Musculoskeletal structure of digit of right hand |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
struktur af fleksorsenes seneskede i finger |
Is a |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
Camptodactyly-little finger |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
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 |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
3 |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
1 |
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
2 |
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
3 |
Structure of joint of digit of hand (body structure) |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
5 |
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
5 |
A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Finding site |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
3 |
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992. |
Finding site |
False |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
9 |
Structure of flexor tendon sheath within digit of hand (body structure) |
Is a |
True |
Musculoskeletal structure of digit of hand |
Inferred relationship |
Some |
|