Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Dimple |
Is a |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fold |
Is a |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Wrinkle |
Is a |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital abnormal shape |
Is a |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Abnormal curvature (morphologic abnormality) |
Is a |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deformity (morphologic abnormality) |
Is a |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Indentation |
Is a |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Parrot-beak nail |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pincer nail deformity |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overcurvature of nail (disorder) |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Longitudinal overcurvature of nail |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Transverse overcurvature of nail |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Koilonychia |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Abnormality of nail shape (disorder) |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Transverse overcurvature of nail |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Abnormality of nail shape (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Longitudinal overcurvature of nail |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Koilonychia |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pincer nail deformity |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overcurvature of nail (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parrot-beak nail |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Turtleback nail (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of arch of cervical vertebra |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital discoid lateral meniscus of knee (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital discoid meniscus of knee (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Misshapen ear |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tapered teeth (disorder) |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mis-shapen pelvis (finding) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired koilonychia (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of arch of thoracic vertebra (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bicornuate uterus (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of radius |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mesotaurodontism |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uterus bicornis unicollis |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uterus arcuatus |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of ischium |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of mandible |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of zygomatic bone (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of rib |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leptocephaly |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of auditory ossicles (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of basisphenoid bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dumbbell-shaped cartilaginous centrum of lumbar vertebra |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial scaphocephaly syndrome McGillivray type (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
ménisque discoïde congénital |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parachute malformation of tricuspid valve |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Manus extensa |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital abnormal shape of basioccipital bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
C syndrome |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital abnormal shape of metacarpal bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of calcaneus |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of frontal bone (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypertaurodontism |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of exoccipital bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital bowing of fibula (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of scapula |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uterus bicornis bicollis with blind hemi-vagina (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of metatarsal bone (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lenticonus |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trigonocephaly, short stature, developmental delay syndrome (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital abnormal shape of premaxilla (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of centrum of thoracic vertebra |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of gallbladder |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Posterior lenticonus |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Trigonocephaly |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of spleen (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bathrocephaly (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of lacrimal bone (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uterus bicornis bicollis with patent cervix and vagina |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of nasal bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dumbbell-shaped cartilaginous centrum of sacral vertebra (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of squamosal bone (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of carpal bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of alisphenoid bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Coloboma of lens |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
elliptocytose congénitale |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Secondary lens coloboma (disorder) |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Platyspondylia |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of ovary |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overriding skull bones |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Long narrow head (disorder) |
Associated morphology |
False |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bicornuate uterus affecting pregnancy (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of hyoid bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of centrum of cervical vertebra |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of arch of lumbar vertebra |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of ilium (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uterus incudiformis |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormality of skull shape |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of talus |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of sternebra |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of palate rugae (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of inner ear |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of fibula (disorder) |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of tarsal bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of centrum of sacral vertebra |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of humerus |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital abnormal shape of palatine bone |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital anomaly of lens shape |
Associated morphology |
True |
Abnormal shape (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |