Human Phenotype Ontology 
Grandparent Node:
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Functional abnormality of the gastrointestinal tract (HP:0012719)help
Parent Node:
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Abnormal gastrointestinal motility (HP:0030895)help
..Starting node
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Gastrointestinal dysmotility (HP:0002579)help
Term ID: 2579
Name: Gastrointestinal dysmotility
Synonym: GI dysmotility
Definition: Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Comments:
Reference: HP:0002579
Genes and Diseases:
 
       Child Nodes:
........expandIleus (HP:0002595) help
................... HP:0002590 Paralytic ileus
................... HP:0010676 Mechanical ileus
........expandIntestinal pseudo-obstruction (HP:0004389) help
........expandSmall intestinal dysmotility (HP:0012850) help
........expandAbnormal peristalsis (HP:0030914) help
................... HP:0100770 Hyperperistalsis
................... HP:0100771 Hypoperistalsis

 Sister Nodes: 
..expandAbnormal gastrointestinal transit time (HP:0030896) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002579HP:0002579Gastrointestinal dysmotility0B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0002579Gastrointestinal dysmotility0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0002579Gastrointestinal dysmotility0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0002579Gastrointestinal dysmotility0TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0002579Gastrointestinal dysmotility0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0002579Gastrointestinal dysmotility0WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0004389Intestinal pseudo-obstruction1B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0002595Ileus1B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0030914Abnormal peristalsis1B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0012850Small intestinal dysmotility1B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0004389Intestinal pseudo-obstruction1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0002595Ileus1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0030914Abnormal peristalsis1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0012850Small intestinal dysmotility1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0002595Ileus1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0004389Intestinal pseudo-obstruction1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0012850Small intestinal dysmotility1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0030914Abnormal peristalsis1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0004389Intestinal pseudo-obstruction1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0002595Ileus1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0030914Abnormal peristalsis1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0012850Small intestinal dysmotility1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0002595Ileus1TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0004389Intestinal pseudo-obstruction1TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0012850Small intestinal dysmotility1TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0030914Abnormal peristalsis1TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0002595Ileus1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0004389Intestinal pseudo-obstruction1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0012850Small intestinal dysmotility1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0030914Abnormal peristalsis1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0002595Ileus1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0004389Intestinal pseudo-obstruction1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0012850Small intestinal dysmotility1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0030914Abnormal peristalsis1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0100771Hypoperistalsis2B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0010676Mechanical ileus2B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0100770Hyperperistalsis2B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0002590Paralytic ileus2B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0100771Hypoperistalsis2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0010676Mechanical ileus2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0100770Hyperperistalsis2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0002590Paralytic ileus2DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0010676Mechanical ileus2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0100771Hypoperistalsis2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0100770Hyperperistalsis2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0002590Paralytic ileus2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0100771Hypoperistalsis2POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0010676Mechanical ileus2POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0100770Hyperperistalsis2POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0002590Paralytic ileus2POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0010676Mechanical ileus2TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0100771Hypoperistalsis2TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0100770Hyperperistalsis2TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0002590Paralytic ileus2TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0010676Mechanical ileus2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0100771Hypoperistalsis2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0100770Hyperperistalsis2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0002590Paralytic ileus2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0100771Hypoperistalsis2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0010676Mechanical ileus2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0100770Hyperperistalsis2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0002590Paralytic ileus2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0004401Meconium ileus3B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0031857Ineffective esophageal peristalsis3B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0004401Meconium ileus3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0031857Ineffective esophageal peristalsis3DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0004401Meconium ileus3POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0031857Ineffective esophageal peristalsis3POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0004401Meconium ileus3POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0031857Ineffective esophageal peristalsis3POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0004401Meconium ileus3TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0031857Ineffective esophageal peristalsis3TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0004401Meconium ileus3TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0031857Ineffective esophageal peristalsis3TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0004401Meconium ileus3WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0031857Ineffective esophageal peristalsis3WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0002579HP:0002571Achalasia4B2M CL E G H567314652ORPHA160914109700
HP:0002579HP:0002571Achalasia4DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0002579HP:0002571Achalasia4POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002579HP:0002571Achalasia4POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM123249179174763
HP:0002579HP:0002571Achalasia4TXN2 CL E G H25828478029ORPHA17617772609063
HP:0002579HP:0002571Achalasia4TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002579HP:0002571Achalasia4WFS1 CL E G H7466411590ORPHA1163412762606201
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002579HP:0002579Gastrointestinal dysmotility0CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0002579Gastrointestinal dysmotility0DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0002579Gastrointestinal dysmotility0FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0002579Gastrointestinal dysmotility0FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0002579Gastrointestinal dysmotility0HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0002579Gastrointestinal dysmotility0MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0002579Gastrointestinal dysmotility0SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0002579Gastrointestinal dysmotility0TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0002595Ileus1CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0004389Intestinal pseudo-obstruction1CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0030914Abnormal peristalsis1CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0012850Small intestinal dysmotility1CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0002595Ileus1DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0004389Intestinal pseudo-obstruction1DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0030914Abnormal peristalsis1DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0012850Small intestinal dysmotility1DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0002595Ileus1FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0004389Intestinal pseudo-obstruction1FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0012850Small intestinal dysmotility1FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0030914Abnormal peristalsis1FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0002595Ileus1FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0004389Intestinal pseudo-obstruction1FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0012850Small intestinal dysmotility1FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0030914Abnormal peristalsis1FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0002595Ileus1HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0004389Intestinal pseudo-obstruction1HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0030914Abnormal peristalsis1HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0012850Small intestinal dysmotility1HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0002595Ileus1MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0004389Intestinal pseudo-obstruction1MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0012850Small intestinal dysmotility1MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0030914Abnormal peristalsis1MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0004389Intestinal pseudo-obstruction1SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0002595Ileus1SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0030914Abnormal peristalsis1SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0012850Small intestinal dysmotility1SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0002595Ileus1TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0004389Intestinal pseudo-obstruction1TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0012850Small intestinal dysmotility1TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0030914Abnormal peristalsis1TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0010676Mechanical ileus2CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0100771Hypoperistalsis2CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0100770Hyperperistalsis2CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0002590Paralytic ileus2CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0100771Hypoperistalsis2DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0010676Mechanical ileus2DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0100770Hyperperistalsis2DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0002590Paralytic ileus2DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0010676Mechanical ileus2FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0100771Hypoperistalsis2FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0100770Hyperperistalsis2FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0002590Paralytic ileus2FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0010676Mechanical ileus2FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0100771Hypoperistalsis2FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0100770Hyperperistalsis2FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0002590Paralytic ileus2FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0100771Hypoperistalsis2HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0010676Mechanical ileus2HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0100770Hyperperistalsis2HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0002590Paralytic ileus2HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0010676Mechanical ileus2MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0100771Hypoperistalsis2MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0100770Hyperperistalsis2MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0002590Paralytic ileus2MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0100771Hypoperistalsis2SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0010676Mechanical ileus2SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0100770Hyperperistalsis2SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0002590Paralytic ileus2SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0010676Mechanical ileus2TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0100771Hypoperistalsis2TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0100770Hyperperistalsis2TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0002590Paralytic ileus2TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0004401Meconium ileus3CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0031857Ineffective esophageal peristalsis3CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0004401Meconium ileus3DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0031857Ineffective esophageal peristalsis3DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0004401Meconium ileus3FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0031857Ineffective esophageal peristalsis3FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0004401Meconium ileus3FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0031857Ineffective esophageal peristalsis3FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0004401Meconium ileus3HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0031857Ineffective esophageal peristalsis3HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0004401Meconium ileus3MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0031857Ineffective esophageal peristalsis3MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0004401Meconium ileus3SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0031857Ineffective esophageal peristalsis3SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0004401Meconium ileus3TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0031857Ineffective esophageal peristalsis3TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985
HP:0002579HP:0002571Achalasia4CDK4 CL E G H101999971ORPHA09301773123829
HP:0002579HP:0002571Achalasia4DDIT3 CL E G H164999967ORPHA0232726126337
HP:0002579HP:0002571Achalasia4FLVCR1 CL E G H2898288628ORPHA052924682609144
HP:0002579HP:0002571Achalasia4FUS CL E G H252199967ORPHA04744010137070
HP:0002579HP:0002571Achalasia4HMGA2 CL E G H809199971ORPHA0345009600698
HP:0002579HP:0002571Achalasia4MDM2 CL E G H419399971ORPHA01316973164785
HP:0002579HP:0002571Achalasia4SON CL E G H6651500150ORPHA0103111183182465
HP:0002579HP:0002571Achalasia4TNXB CL E G H7148285Impossible syndromeORPHA0215911976600985


Genes (58) :AAAS ACTA2 ACTB ACTG2 B2M BRCA1 BRCA2 C12ORF65 CAVIN1 CDK4 CDKN2A CFTR CLMP CRLF1 DDIT3 DHCR7 EFEMP2 EWSR1 FAH FBLN5 FLNA FLVCR1 FOXP3 FUS GLA GMPPA GUCY1A1 GUCY2C HLA-DQA1 HLA-DQB1 HMBS HMGA2 IARS2 IDS KRAS LMOD1 MDM2 MYH11 MYLK NOS1 PALB2 PALLD POLG RAD21 RRM2B SAMD9 SLC6A8 SMAD4 SON SOX10 TNXB TP53 TRAPPC11 TWNK TXN2 TYMP WFS1 WT1

Diseases (46) :314652 99971 99967 270400 88628 603041 613662 500150 285 478029 411590 155310 1333 613327 615237 90349 83469 300048 304790 309900 70595 298 607459 611376 52503 300352 163746 613834 2241 613559 276700 176000 219700 614665 869 231550 79107 607371 930 609033 324 615510 615750 436174 617053 615356
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.