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 the biliary system (HP:0004297)

Parent Node:
Cholestasis (HP:0001396)

..Starting node
..Acholic stools (HP:0011985)

Term ID:

11985

Name:

Acholic stools

Synonym:

Acholia; Clay colored stools; Clay coloured stools; Discolored, acholic stools

Definition:

Clay colored stools lacking bile pigment.

Comments:

Reference:

HP:0011985

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cholestatic liver disease (HP:0002611)

Extrahepatic cholestasis (HP:0012334)

Intrahepatic cholestasis (HP:0001406)

Jaundice (HP:0000952)

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:0011985	HP:0011985	Acholic stools	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	5769
HP:0011985	HP:0011985	Acholic stools	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	7642
HP:0011985	HP:0011985	Acholic stools	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0011985	HP:0011985	Acholic stools	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0011985	HP:0011985	Acholic stools	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0011985	HP:0011985	Acholic stools	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0011985	HP:0011985	Acholic stools	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent	1
HP:0011985	HP:0011985	Acholic stools	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28

Genes (8) :BRCA1 BRCA2 CYP7B1 DCDC2 HSD3B7 MYO5B PTPN3 RFX6

Diseases (6) :ORPHA:70567 OMIM:613812 OMIM:617394 OMIM:607765 OMIM:619868 OMIM:615710

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.