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 gallbladder (HP:0005264)

Parent Node:
Abnormal gallbladder morphology (HP:0012437)

..Starting node
..Aplasia/Hypoplasia of the gallbladder (HP:0011466)

Term ID:

11466

Name:

Aplasia/Hypoplasia of the gallbladder

Synonym:

Absent/small gallbladder; Absent/underdeveloped gallbladder

Definition:

Absence or underdevelopment of the gallbladder.

Comments:

Reference:

HP:0011466

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the gallbladder (HP:0005233)

........

Absent gallbladder (HP:0011467)

........

Atretic gallbladder (HP:0011984)

Sister Nodes:

Bilobate gallbladder (HP:0005608)

Cholelithiasis (HP:0001081)

Cystic artery pseudoaneurysm (HP:0030170)

Gallbladder perforation (HP:0030154)

Neoplasm of the gallbladder (HP:0100575)

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:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0011466	HP:0011466	Aplasia/Hypoplasia of the gallbladder	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011466	HP:0011984	Atretic gallbladder	1	CL E G H
HP:0011466	HP:0005233	Hypoplasia of the gallbladder	1	CL E G H
HP:0011466	HP:0011467	Absent gallbladder	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0011466	HP:0011467	Absent gallbladder	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0011466	HP:0011467	Absent gallbladder	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0011466	HP:0011467	Absent gallbladder	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011466	HP:0011467	Absent gallbladder	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0011466	HP:0011467	Absent gallbladder	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0011466	HP:0011467	Absent gallbladder	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0011466	HP:0011467	Absent gallbladder	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12

Genes (7) :CC2D2A CNOT1 FOXF1 GATA6 INTU RFX6 SON

Diseases (9) :OMIM:612284 ORPHA:556955 ORPHA:210122 OMIM:600001 ORPHA:2255 OMIM:617925 OMIM:615710 ORPHA:500150 OMIM:617140

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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