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

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal esophagus morphology (HP:0002031)

Parent Node:
Gastrointestinal inflammation (HP:0004386)

..Starting node
..Esophagitis (HP:0100633)

Term ID:

100633

Name:

Esophagitis

Synonym:

Inflammation of the esophagus; Inflammation of the oesophagus; Oesophagitis

Definition:

Inflammation of the esophagus.

Comments:

Reference:

HP:0100633

Genes and Diseases:

Child Nodes:

........

Eosinophilic infiltration of the esophagus (HP:0410151)

........

Eosinophilic microabscess formation in the esophagus (HP:0410152)

Sister Nodes:

Crohn's disease (HP:0100280)

Inflammation of the large intestine (HP:0002037)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100633	HP:0100633	Esophagitis	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0100633	HP:0100633	Esophagitis	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0100633	HP:0100633	Esophagitis	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0100633	HP:0100633	Esophagitis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0100633	HP:0100633	Esophagitis	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0100633	HP:0100633	Esophagitis	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0100633	HP:0100633	Esophagitis	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0100633	HP:0100633	Esophagitis	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0100633	HP:0100633	Esophagitis	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100633	HP:0100633	Esophagitis	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0100633	HP:0100633	Esophagitis	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	63
HP:0100633	HP:0100633	Esophagitis	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	46
HP:0100633	HP:0100633	Esophagitis	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	18
HP:0100633	HP:0100633	Esophagitis	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0100633	HP:0100633	Esophagitis	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0100633	HP:0100633	Esophagitis	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0100633	HP:0100633	Esophagitis	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0100633	HP:0100633	Esophagitis	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0100633	HP:0100633	Esophagitis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040284 - Very rare	15
HP:0100633	HP:0100633	Esophagitis	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0100633	HP:0100633	Esophagitis	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional	54
HP:0100633	HP:0100633	Esophagitis	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0100633	HP:0100633	Esophagitis	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0100633	HP:0100633	Esophagitis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0100633	HP:0100633	Esophagitis	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	81
HP:0100633	HP:0100633	Esophagitis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100633	HP:0100633	Esophagitis	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0100633	HP:0100633	Esophagitis	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0100633	HP:0100633	Esophagitis	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100633	HP:0100633	Esophagitis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100633	HP:0100633	Esophagitis	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100633	HP:0100633	Esophagitis	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100633	HP:0100633	Esophagitis	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0100633	HP:0100633	Esophagitis	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040284 - Very rare	27
HP:0100633	HP:0410152	Eosinophilic microabscess formation in the esophagus	1	CL E G H
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0100633	HP:0410151	Eosinophilic infiltration of the esophagus	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253

Genes (34) :ADAMTS2 ADAMTSL2 ATAD1 ATP7A CARD8 CARMIL2 CDKN1B DOCK8 ELF4 FERMT1 GLRA1 GLRB GPHN GRB10 IARS1 LMX1B MEN1 MYH11 PGM3 PHGDH PSPH REL RPL11 SLC2A10 SLC6A5 SMAD3 STXBP1 TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TRAPPC11

Diseases (28) :ORPHA:1901 ORPHA:3197 ORPHA:198 OMIM:619079 OMIM:618131 ORPHA:276152 OMIM:243700 OMIM:301074 ORPHA:2908 ORPHA:96182 ORPHA:541423 ORPHA:495818 OMIM:131100 OMIM:619350 ORPHA:443811 ORPHA:79351 ORPHA:79350 OMIM:619652 OMIM:612562 ORPHA:3342 OMIM:613795 ORPHA:2896 OMIM:618213 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:615356

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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