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:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Abnormal large intestine morphology (HP:0002250)

Parent Node:
Intestinal hypoplasia (HP:0005245)

..Starting node
..Aplasia/Hypoplasia of the colon (HP:0100811)

Term ID:

100811

Name:

Aplasia/Hypoplasia of the colon

Synonym:

Absent/small colon; Absent/underdeveloped colon

Definition:

Congenital absence or underdevelopment of the colon.

Comments:

Reference:

HP:0100811

Genes and Diseases:

Child Nodes:

........

Microcolon (HP:0004388)

........

Hypoplastic colon (HP:0005210)

........

Aplastic colon (HP:0500027)

Sister Nodes:

Hypoplasia of the small intestine (HP:0004790)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus			12
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0100811	HP:0100811	Aplasia/Hypoplasia of the colon	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0100811	HP:0500027	Aplastic colon	1	CL E G H
HP:0100811	HP:0005210	Hypoplastic colon	1	CL E G H
HP:0100811	HP:0004388	Microcolon	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent		23
HP:0100811	HP:0004388	Microcolon	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0100811	HP:0004388	Microcolon	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0100811	HP:0004388	Microcolon	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0100811	HP:0004388	Microcolon	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional	HP:0030674 - Antenatal onset	37
HP:0100811	HP:0004388	Microcolon	1	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.		12
HP:0100811	HP:0004388	Microcolon	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0100811	HP:0004388	Microcolon	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent
HP:0100811	HP:0004388	Microcolon	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0100811	HP:0004388	Microcolon	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent		418
HP:0100811	HP:0004388	Microcolon	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0100811	HP:0004388	Microcolon	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent		326
HP:0100811	HP:0004388	Microcolon	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent		61
HP:0100811	HP:0004388	Microcolon	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83

Genes (10) :ACTG2 AP1S1 GATA6 GUCY2C LMNA LMOD1 MYH11 MYLK SOX10 ZMPSTE24

Diseases (10) :ORPHA:2241 OMIM:619431 OMIM:155310 OMIM:609313 OMIM:600001 OMIM:614665 ORPHA:1662 OMIM:619362 OMIM:619351 ORPHA:163746

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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