| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Agenesis of right hemisphere of cerebellum (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of left hemisphere of cerebellum (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Lumbosacral agenesis (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Agenesis of cervical vertebra |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital complete absence of right lower limb (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital complete absence of left lower limb |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
5 |
| A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| Congenital anophthalmos with orbital implant |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| A rare, congenital, cerebellar malformation disorder characterised by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnoea, and delayed gait acquisition, as well as delayed speech and language development. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital complete absence of left upper limb |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Congenital complete absence of right upper limb (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
4 |
| A rare genetic disorder involving multiple structures of the eye. The disease is characterised by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous haemorrhages). No extraocular manifestations are observed. |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of distal phalanx of second toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of distal phalanx of third toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of entire finger and metacarpal bone (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of entire finger and metacarpal bone (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Agenesis of distal interphalangeal flexion crease |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of entire toe and metatarsal bone |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of entire toe and metatarsal bone |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
2 |
| Agenesis of all distal phalanges of hand |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of bone of wrist and/or hand |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of distal interphalangeal flexion crease of ring finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of fifth toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of phalanx of toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of great toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of index finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of middle finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of ring finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of second toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of fourth toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of third toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of hand |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of thumb (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of distal phalanx of little finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of index finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of middle finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of ring finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of little finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of second toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of first metacarpal bone (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of fourth toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of third toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of fifth toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of first metatarsal bone (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of metacarpal bone (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of middle phalanx of finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of great toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of middle finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of index finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of ring finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of little finger (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of second toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of fifth toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of fourth toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of third toe |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of thumb (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of epiphysis of proximal phalanx of hand |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of lunula (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of middle phalanx of third toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of proximal phalanx of third toe (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of middle phalanx of index finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of phalanx of thumb |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of proximal epiphysis of radius |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of middle phalanx of ring finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of middle phalanx of middle finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of interphalangeal skin crease (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of proximal phalanx of thumb |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of middle phalanx of little finger |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of proximal interphalangeal skin crease |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of soft palate (disorder) |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Monophthalmos |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
| Agenesis of external ear |
Associated morphology |
True |
Agenesis (morphologic abnormality) |
Inferred relationship |
Some |
1 |
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