| Term ID: |
5265 |
| Name: |
Abnormal jejunum morphology |
| Synonym: |
Abnormality of the jejunum |
| Definition: |
An abnormality of the jejunum, i.e., of the middle section of the small intestine. |
| Comments: |
|
| Reference: |
HP:0005265 |
| Genes and Diseases: | |
Child Nodes: |
........ Jejunoileal ulceration (HP:0005229) 
|
........Jejunal atresia (HP:0005235)
|
Sister Nodes: |
..Abnormal duodenum morphology (HP:0002246)
|
..Abnormal ileum morphology (HP:0001549)
|
..Abnormal small intestinal mucosa morphology (HP:0025129)
|
..Abnormality of small intestinal villus morphology (HP:0011472)
|
..Agenesis of the small intestine (HP:0012739)
|
..Celiac disease (HP:0002608)
|
..Congenital shortened small intestine (HP:0030889)
|
..Fat malabsorption (HP:0002630)
|
..Hypoplasia of the small intestine (HP:0004790)
|
..Malrotation of small bowel (HP:0004794)
|
..Protein-losing enteropathy (HP:0002243)
|
..Small bowel diverticula (HP:0002256)
|
..Small intestinal bleeding (HP:0012849)
|
..Small intestinal dysmotility (HP:0012850)
|
..Small intestinal stenosis (HP:0012848)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | | | | 1 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | | | | 1 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | | | | 28 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | | | HP:0005265 | HP:0005265 | Abnormal jejunum morphology | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | | | HP:0005265 | HP:0033143 | Jejunitis | 1 | CL E G H | | | | | | | | | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | | | | 1 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | HP:0040282 - Frequent | | | 1 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040284 - Very rare | | | 35 | | | | HP:0005265 | HP:0005229 | Jejunoileal ulceration | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 11 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | | | HP:0005265 | HP:0005229 | Jejunoileal ulceration | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040282 - Frequent | | | 26 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | | | HP:0005265 | HP:0005235 | Jejunal atresia | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
Genes (10) :AP1S1 CENPF MIR17HG MYCN PI4KA PPP1R12A RFX6 SLC25A12 TTC7A ZNF699
Diseases (11) :OMIM:609313 OMIM:243605 ORPHA:391646 OMIM:164280 ORPHA:391641 ORPHA:436252 OMIM:618820 OMIM:615710 OMIM:612949 OMIM:243150 OMIM:619488 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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