Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Long segment Hirschsprung's disease |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Short segment Hirschsprung's disease |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Total intestinal aganglionosis |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Aganglionosis of Auerbach's plexus |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Hirschsprung's disease NOS |
Is a |
False |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Mowat-Wilson syndrome (disorder) |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
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). |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
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). |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Hirschsprung disease of rectosigmoid region (disorder) |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Extensive aganglionosis Hirschsprung disease (disorder) |
Is a |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
|
Soave endorectal pull-through operation for Hirschsprung's disease |
Has focus |
True |
Congenital aganglionic megacolon |
Inferred relationship |
Some |
3 |