Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Autonomic nerve structure |
Is a |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|
Disorder of peripheral autonomic nervous system |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
1 |
Celiac plexus syndrome |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
3 |
Congenital aganglionic megacolon |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Long segment Hirschsprung's disease |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Short segment Hirschsprung's disease |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Total intestinal aganglionosis |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Familial visceral neuropathy |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Aganglionosis of parasympathetic nerve ganglia |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Mowat-Wilson syndrome (disorder) |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
8 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
7 |
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
5 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
6 |
Hirschsprung disease of rectosigmoid region (disorder) |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Extensive aganglionosis Hirschsprung disease (disorder) |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Immature ganglionosis of large intestine (disorder) |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Aganglionosis of large intestine (disorder) |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
3 |
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
7 |
Aganglionosis of Auerbach's plexus |
Finding site |
False |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
4 |
Intestinal autonomic neuropathy |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
3 |
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Autonomic plexus structure |
Is a |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|
Structure of autonomic nervous system of upper limb (body structure) |
Is a |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|
Structure of autonomic nervous system of lower limb (body structure) |
Is a |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|
Structure of autonomic nervous system of trunk (body structure) |
Is a |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|
Structure of autonomic nervous system of head and/or neck (body structure) |
Is a |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|
Congenital aganglionosis of small intestine |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Total colonic aganglionosis |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Aganglionosis of colon |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Aganglionosis of large intestine (disorder) |
Finding site |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
2 |
Structure of autonomic ganglion (body structure) |
Is a |
True |
Structure of peripheral part of autonomic nervous system (body structure) |
Inferred relationship |
Some |
|