Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 liver (HP:0001392)

Parent Node:
Abnormality of the biliary system (HP:0004297)

..Starting node
..Abnormality of the gallbladder (HP:0005264)

Term ID:

5264

Name:

Abnormality of the gallbladder

Synonym:

Abnormality of the gallbladder; Anomaly of the gallbladder

Definition:

An abnormality of the gallbladder.

Comments:

Reference:

HP:0005264

Genes and Diseases:

Child Nodes:

........

Abnormal gallbladder morphology (HP:0012437)

................... HP:0001081 Cholelithiasis
................... HP:0005608 Bilobate gallbladder
................... HP:0011466 Aplasia/Hypoplasia of the gallbladder
................... HP:0030154 Gallbladder perforation
................... HP:0030170 Cystic artery pseudoaneurysm
................... HP:0100575 Neoplasm of the gallbladder

........

Abnormal gallbladder physiology (HP:0012438)

................... HP:0001082 Cholecystitis
................... HP:0005609 Gallbladder dysfunction

Sister Nodes:

Biliary tract abnormality (HP:0001080)

Cholestasis (HP:0001396)

Malformation of the hepatic ductal plate (HP:0006563)

Portal fibrosis (HP:0006580)

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:0005264	HP:0005264	Abnormality of the gallbladder	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4		76
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis		6
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria		145
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040282 - Frequent	43
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis		5
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis		228
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis		156
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0005264	HP:0005264	Abnormality of the gallbladder	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2		146
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy		146
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1		111
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy		111
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4		76
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy		144
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia		2
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis		6
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria		145
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia		1
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis		5
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia		580
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency		11
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy		14
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis		228
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis		156
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0005264	HP:0012438	Abnormal gallbladder physiology	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0005264	HP:0012437	Abnormal gallbladder morphology	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0005264	HP:0030154	Gallbladder perforation	2	CL E G H
HP:0005264	HP:0034507	Gallbladder mass	2	CL E G H
HP:0005264	HP:0034506	Gallbladder enlargement	2	CL E G H
HP:0005264	HP:0034505	Gallbladder wall thickening	2	CL E G H
HP:0005264	HP:0032023	Eosinophilic gallbladder infiltration	2	CL E G H
HP:0005264	HP:0030170	Cystic artery pseudoaneurysm	2	CL E G H
HP:0005264	HP:0001081	Cholelithiasis	2	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.	146
HP:0005264	HP:0001082	Cholecystitis	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0005264	HP:0001081	Cholelithiasis	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0005264	HP:0001082	Cholecystitis	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0005264	HP:0001082	Cholecystitis	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0005264	HP:0001081	Cholelithiasis	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent	111
HP:0005264	HP:0001082	Cholecystitis	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional	111
HP:0005264	HP:0001081	Cholelithiasis	2	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4		76
HP:0005264	HP:0001082	Cholecystitis	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	178
HP:0005264	HP:0001081	Cholelithiasis	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0005264	HP:0001081	Cholelithiasis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0005264	HP:0001081	Cholelithiasis	2	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked	HP:0040283 - Occasional	72
HP:0005264	HP:0001082	Cholecystitis	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0005264	HP:0001081	Cholelithiasis	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0005264	HP:0001081	Cholelithiasis	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0005264	HP:0001081	Cholelithiasis	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0005264	HP:0001081	Cholelithiasis	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.	150
HP:0005264	HP:0001082	Cholecystitis	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0005264	HP:0005609	Gallbladder dysfunction	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0005264	HP:0100575	Neoplasm of the gallbladder	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	253
HP:0005264	HP:0001082	Cholecystitis	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0005264	HP:0001082	Cholecystitis	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0005264	HP:0001082	Cholecystitis	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	253
HP:0005264	HP:0001081	Cholelithiasis	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0001081	Cholelithiasis	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare	145
HP:0005264	HP:0001081	Cholelithiasis	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0005264	HP:0001082	Cholecystitis	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0005264	HP:0034504	Septate gallbladder	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0005264	HP:0001081	Cholelithiasis	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.	2
HP:0005264	HP:0001081	Cholelithiasis	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001082	Cholecystitis	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0005264	HP:0001081	Cholelithiasis	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0005264	HP:0001081	Cholelithiasis	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0005264	HP:0001081	Cholelithiasis	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0005264	HP:0001081	Cholelithiasis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0005264	HP:0001081	Cholelithiasis	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0005264	HP:0001081	Cholelithiasis	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0005264	HP:0001081	Cholelithiasis	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0005264	HP:0001081	Cholelithiasis	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0005264	HP:0001082	Cholecystitis	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	186
HP:0005264	HP:0001081	Cholelithiasis	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0005264	HP:0001081	Cholelithiasis	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	6
HP:0005264	HP:0001081	Cholelithiasis	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0005264	HP:0001082	Cholecystitis	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0005264	HP:0001081	Cholelithiasis	2	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional	145
HP:0005264	HP:0001081	Cholelithiasis	2	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0005264	HP:0001081	Cholelithiasis	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0005264	HP:0001081	Cholelithiasis	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0005264	HP:0001081	Cholelithiasis	2	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent	1
HP:0005264	HP:0001081	Cholelithiasis	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0005264	HP:0001082	Cholecystitis	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	8
HP:0005264	HP:0001081	Cholelithiasis	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0005264	HP:0001081	Cholelithiasis	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0005264	HP:0001082	Cholecystitis	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0005264	HP:0001081	Cholelithiasis	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0005264	HP:0100575	Neoplasm of the gallbladder	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	2
HP:0005264	HP:0001081	Cholelithiasis	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0005264	HP:0001081	Cholelithiasis	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0001081	Cholelithiasis	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0001081	Cholelithiasis	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0001081	Cholelithiasis	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	5
HP:0005264	HP:0001081	Cholelithiasis	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0005264	HP:0001081	Cholelithiasis	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0005264	HP:0001081	Cholelithiasis	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0005264	HP:0001081	Cholelithiasis	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0005264	HP:0001082	Cholecystitis	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0005264	HP:0001081	Cholelithiasis	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0005264	HP:0001082	Cholecystitis	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0005264	HP:0001082	Cholecystitis	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005264	HP:0001082	Cholecystitis	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0005264	HP:0001081	Cholelithiasis	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0005264	HP:0001081	Cholelithiasis	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0005264	HP:0001081	Cholelithiasis	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0005264	HP:0001081	Cholelithiasis	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001082	Cholecystitis	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional	950
HP:0005264	HP:0001081	Cholelithiasis	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0005264	HP:0001081	Cholelithiasis	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0001081	Cholelithiasis	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005264	HP:0100575	Neoplasm of the gallbladder	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	1
HP:0005264	HP:0001081	Cholelithiasis	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0005264	HP:0001081	Cholelithiasis	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0005264	HP:0001082	Cholecystitis	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0005264	HP:0001081	Cholelithiasis	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0005264	HP:0001081	Cholelithiasis	2	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0005264	HP:0001081	Cholelithiasis	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0005264	HP:0001081	Cholelithiasis	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	HP:0040283 - Occasional	36
HP:0005264	HP:0001081	Cholelithiasis	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0005264	HP:0001081	Cholelithiasis	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0005264	HP:0001082	Cholecystitis	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.	51
HP:0005264	HP:0001082	Cholecystitis	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040284 - Very rare	65
HP:0005264	HP:0100575	Neoplasm of the gallbladder	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	81
HP:0005264	HP:0001082	Cholecystitis	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0005264	HP:0001082	Cholecystitis	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0005264	HP:0001082	Cholecystitis	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	81
HP:0005264	HP:0001081	Cholelithiasis	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome		28
HP:0005264	HP:0001081	Cholelithiasis	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005264	HP:0034504	Septate gallbladder	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0005264	HP:0001081	Cholelithiasis	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	67
HP:0005264	HP:0001081	Cholelithiasis	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	61
HP:0005264	HP:0001081	Cholelithiasis	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional	57
HP:0005264	HP:0001081	Cholelithiasis	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.	60
HP:0005264	HP:0001081	Cholelithiasis	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0005264	HP:0100575	Neoplasm of the gallbladder	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0005264	HP:0001081	Cholelithiasis	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0005264	HP:0001081	Cholelithiasis	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0005264	HP:0001082	Cholecystitis	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	504
HP:0005264	HP:0001081	Cholelithiasis	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0005264	HP:0001081	Cholelithiasis	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0005264	HP:0011466	Aplasia/Hypoplasia of the gallbladder	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0005264	HP:0001081	Cholelithiasis	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	228
HP:0005264	HP:0001081	Cholelithiasis	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0005264	HP:0001081	Cholelithiasis	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	156
HP:0005264	HP:0001081	Cholelithiasis	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0005264	HP:0001081	Cholelithiasis	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0005264	HP:0001081	Cholelithiasis	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0005264	HP:0100575	Neoplasm of the gallbladder	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	241
HP:0005264	HP:0001081	Cholelithiasis	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0005264	HP:0001082	Cholecystitis	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0005264	HP:0001081	Cholelithiasis	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0005264	HP:0001081	Cholelithiasis	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28
HP:0005264	HP:0001082	Cholecystitis	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.	28
HP:0005264	HP:0001081	Cholelithiasis	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0005264	HP:0001081	Cholelithiasis	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0005264	HP:0001081	Cholelithiasis	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005264	HP:0001081	Cholelithiasis	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0005264	HP:0011984	Atretic gallbladder	3	CL E G H
HP:0005264	HP:0005233	Hypoplasia of the gallbladder	3	CL E G H
HP:0005264	HP:0011980	Cholesterol gallstones	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0005264	HP:0005608	Bilobate gallbladder	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0005264	HP:0011467	Absent gallbladder	3	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0005264	HP:0011467	Absent gallbladder	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0005264	HP:0011980	Cholesterol gallstones	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0005264	HP:0011467	Absent gallbladder	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0005264	HP:0011467	Absent gallbladder	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0005264	HP:0011981	Pigment gallstones	3	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0005264	HP:0011981	Pigment gallstones	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0005264	HP:0011467	Absent gallbladder	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0005264	HP:0011467	Absent gallbladder	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0005264	HP:0005608	Bilobate gallbladder	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0005264	HP:0011467	Absent gallbladder	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0005264	HP:0011467	Absent gallbladder	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0005264	HP:0011983	Brown pigment gallstones	4	CL E G H
HP:0005264	HP:0011982	Black pigment gallstones	4	CL E G H

Genes (112) :ABCB11 ABCB4 ABCG8 ACVRL1 AIRE ALAS2 ALDOA AMACR ANK1 ARSA ARVCF ASXL1 ATP8B1 B3GLCT BAZ1B BCL7B BLVRA BUD23 CALR CC2D2A CCDC47 CLIP2 CNOT1 COMT CPLX1 CTBP1 CYP27A1 CYP7A1 DHCR7 DMPK DNAJC30 EIF4H ELN ENG EPB41 EPB42 F5 FECH FKBP6 FOXF1 FUCA1 GATA6 GBA1 GCGR GDF2 GNE GP1BB GPI GPR35 GTF2I GTF2IRD1 GTF2IRD2 GYPC HBB HIRA HK1 HOXD13 IGHG2 IGKC INTU JAK2 JMJD1C KCNN4 KDM5C LETM1 LIMK1 MECP2 MED25 METTL27 MLXIPL MST1 NCF1 NELFA NR1H4 NSD2 PEX19 PFKM PIEZO1 PIGG PKHD1 PKLR PNPLA2 PSAP RFC2 RFX6 RREB1 SC5D SCNN1A SCNN1B SCNN1G SEC23B SEC24C SEMA4D SLC4A1 SMAD4 SMPD1 SON SPTA1 SPTB STK11 STX1A TBL2 TBX1 TCF4 TFE3 TMEM270 TPI1 UFD1 UQCRFS1 UROS VPS37D VPS4A

Diseases (75) :OMIM:605479 ORPHA:69665 OMIM:600803 ORPHA:69663 OMIM:611465 ORPHA:774 OMIM:240300 OMIM:300752 OMIM:611881 ORPHA:79095 ORPHA:822 OMIM:182900 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:567 ORPHA:97297 OMIM:211600 OMIM:261540 ORPHA:904 OMIM:614156 ORPHA:131 OMIM:612284 OMIM:618268 ORPHA:556955 ORPHA:280 OMIM:213700 ORPHA:909 ORPHA:209902 ORPHA:818 OMIM:160900 ORPHA:288 ORPHA:79278 OMIM:177000 ORPHA:210122 ORPHA:349 OMIM:600001 ORPHA:2255 ORPHA:2072 ORPHA:438274 ORPHA:3166 OMIM:613470 ORPHA:171 ORPHA:231222 OMIM:603903 ORPHA:232 OMIM:235700 ORPHA:887 ORPHA:183675 OMIM:617925 ORPHA:3202 OMIM:300534 ORPHA:778 ORPHA:464738 OMIM:614886 OMIM:232800 OMIM:194380 ORPHA:53035 OMIM:266200 ORPHA:98908 OMIM:615710 OMIM:607330 ORPHA:171876 OMIM:224100 ORPHA:77293 ORPHA:500150 OMIM:617140 ORPHA:2869 OMIM:188400 OMIM:301066 OMIM:615512 OMIM:618775 OMIM:263700 OMIM:619273

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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