Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of digestive system physiology (HP:0025032)

Grandparent Node:
Abnormality of the gastrointestinal tract (HP:0011024)

Parent Node:
Functional abnormality of the gastrointestinal tract (HP:0012719)

..Starting node
..Gastrointestinal obstruction (HP:0004796)

Term ID:

4796

Name:

Gastrointestinal obstruction

Synonym:

Gastrointestinal obstruction; GI obstruction; Obstruction in digestive tract

Definition:

Comments:

Reference:

HP:0004796

Genes and Diseases:

Child Nodes:

........

Intestinal obstruction (HP:0005214)

................... HP:0002595 Ileus
................... HP:0005234 Neonatal intestinal obstruction
................... HP:0005250 High intestinal obstruction

........

Esophageal obstruction (HP:0005240)

........

Functional intestinal obstruction (HP:0005249)

Sister Nodes:

Abnormal esophagus physiology (HP:0025270)

Abnormal gastrointestinal motility (HP:0030895)

Gastrointestinal hemorrhage (HP:0002239)

Gastrointestinal infarctions (HP:0005244)

Gastrointestinal inflammation (HP:0004386)

Peptic ulcer (HP:0004398)

Recurrent infection of the gastrointestinal tract (HP:0004798)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0005240	Esophageal obstruction	1	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0005249	Functional intestinal obstruction	1	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0005214	Intestinal obstruction	1	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0002595	Ileus	2	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0005234	Neonatal intestinal obstruction	2	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0005250	High intestinal obstruction	2	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0010676	Mechanical ileus	3	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0002590	Paralytic ileus	3	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HP:0004796	HP:0004401	Meconium ileus	4	MNX1 CL E G H	3110	176450	Currarino triad	176450	C1531773	OMIM	1	327	4979	142994
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (71) :APC BRCA1 BRCA2 C12ORF65 CAVIN1 CD55 CDKN2A CFTR COX1 COX2 COX3 CTLA4 CTNNB1 ECE1 EDN3 EDNRB EFEMP2 ERCC2 EWSR1 F5 FAH FBLN5 FOXP3 GDNF GUCY2C HLA-DPA1 HLA-DPB1 HMBS INHBA JAK2 JAK3 KIT KRAS MEFV MNX1 MVK MYC ND1 ND4 ND5 ND6 NOTCH3 NRTN PALB2 PALLD PDGFRA PDGFRB PRTN3 PTPN22 RET SDHA SDHB SDHC SDHD SEMA3C SEMA3D SLC6A8 SMAD4 SOX10 STK11 TBCE TNFRSF1A TP53 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW WT1

Diseases (34) :176450 873 1333 226300 550 900 388 897 601675 131 213504 600802 44890 606764 342 343 543 2591 97286 2869 2323 32960 613327 90349 83469 304790 52503 300352 163746 613559 276700 176000 219700 614665

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

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