Human Phenotype Ontology

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:0005245	HP:0005245	Intestinal hypoplasia	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0005245	HP:0005245	Intestinal hypoplasia	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0005245	HP:0005245	Intestinal hypoplasia	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0005245	HP:0005245	Intestinal hypoplasia	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0005245	HP:0005245	Intestinal hypoplasia	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040281 - Very frequent		7
HP:0005245	HP:0005245	Intestinal hypoplasia	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional		91
HP:0005245	HP:0005245	Intestinal hypoplasia	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040281 - Very frequent		493
HP:0005245	HP:0005245	Intestinal hypoplasia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0005245	HP:0005245	Intestinal hypoplasia	0	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus			12
HP:0005245	HP:0005245	Intestinal hypoplasia	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0005245	HP:0005245	Intestinal hypoplasia	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0005245	HP:0005245	Intestinal hypoplasia	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0005245	HP:0005245	Intestinal hypoplasia	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional		72
HP:0005245	HP:0005245	Intestinal hypoplasia	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0005245	HP:0005245	Intestinal hypoplasia	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0005245	HP:0005245	Intestinal hypoplasia	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0005245	HP:0005245	Intestinal hypoplasia	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0005245	HP:0005245	Intestinal hypoplasia	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0005245	HP:0005245	Intestinal hypoplasia	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional		73
HP:0005245	HP:0005245	Intestinal hypoplasia	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional		2
HP:0005245	HP:0005245	Intestinal hypoplasia	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0005245	HP:0005245	Intestinal hypoplasia	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional		106
HP:0005245	HP:0005245	Intestinal hypoplasia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0005245	HP:0004790	Hypoplasia of the small intestine	1	CL E G H
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus			12
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0005245	HP:0100811	Aplasia/Hypoplasia of the colon	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0005245	HP:0500027	Aplastic colon	2	CL E G H
HP:0005245	HP:0005210	Hypoplastic colon	2	CL E G H
HP:0005245	HP:0004388	Microcolon	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent		23
HP:0005245	HP:0004388	Microcolon	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0005245	HP:0004388	Microcolon	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0005245	HP:0004388	Microcolon	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0005245	HP:0004388	Microcolon	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional	HP:0030674 - Antenatal onset	37
HP:0005245	HP:0004388	Microcolon	2	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.		12
HP:0005245	HP:0004388	Microcolon	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0005245	HP:0004388	Microcolon	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent
HP:0005245	HP:0004388	Microcolon	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0005245	HP:0004388	Microcolon	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent		418
HP:0005245	HP:0004388	Microcolon	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0005245	HP:0004388	Microcolon	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040281 - Very frequent		326
HP:0005245	HP:0004388	Microcolon	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent		61
HP:0005245	HP:0004388	Microcolon	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83