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:
Neoplasm of fatty tissue (HP:0200013)

Parent Node:
Lipomatous tumor (HP:0012031)

..Starting node
..Multiple lipomas (HP:0001012)

Term ID:

1012

Name:

Multiple lipomas

Synonym:

Lipomas; Lipomatosis; Multiple fatty lumps

Definition:

The presence of multiple lipomas (a type of benign tissue made of fatty tissue).

Comments:

Reference:

HP:0001012

Genes and Diseases:

Child Nodes:

........

Subcutaneous lipoma (HP:0001031)

................... HP:0007596 Painful subcutaneous lipomas

........

Cutaneous angiolipomas (HP:0006773)

........

Lipomas of the central neryous system (HP:0100251)

................... HP:0006866 Midline central nervous system lipomas

Sister Nodes:

Lipoma (HP:0012032)

Liposarcoma (HP:0012034)

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:0001012	HP:0001012	Multiple lipomas	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001012	HP:0001012	Multiple lipomas	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0001012	HP:0001012	Multiple lipomas	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0001012	HP:0001012	Multiple lipomas	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0001012	HP:0001012	Multiple lipomas	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0001012	HP:0001012	Multiple lipomas	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0001012	HP:0001012	Multiple lipomas	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0001012	HP:0001012	Multiple lipomas	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0001012	HP:0001012	Multiple lipomas	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0001012	HP:0001012	Multiple lipomas	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0001012	HP:0001012	Multiple lipomas	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0001012	HP:0001012	Multiple lipomas	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0001012	HP:0001012	Multiple lipomas	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0001012	HP:0001012	Multiple lipomas	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0001012	HP:0001012	Multiple lipomas	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001012	HP:0001012	Multiple lipomas	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	172
HP:0001012	HP:0001012	Multiple lipomas	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0001012	HP:0001012	Multiple lipomas	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040282 - Frequent	332
HP:0001012	HP:0001012	Multiple lipomas	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0001012	HP:0001012	Multiple lipomas	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0001012	HP:0001012	Multiple lipomas	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.	16
HP:0001012	HP:0001012	Multiple lipomas	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	196
HP:0001012	HP:0001012	Multiple lipomas	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040283 - Occasional	68
HP:0001012	HP:0001012	Multiple lipomas	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0001012	HP:0001012	Multiple lipomas	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0001012	HP:0001012	Multiple lipomas	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent	203
HP:0001012	HP:0001012	Multiple lipomas	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001012	HP:0001012	Multiple lipomas	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0001012	HP:0001012	Multiple lipomas	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0001012	HP:0001012	Multiple lipomas	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001012	HP:0001012	Multiple lipomas	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0001012	HP:0001012	Multiple lipomas	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0001012	HP:0001012	Multiple lipomas	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001012	HP:0001012	Multiple lipomas	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0001012	HP:0001012	Multiple lipomas	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0001012	HP:0001012	Multiple lipomas	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0001012	HP:0001012	Multiple lipomas	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0001012	HP:0001012	Multiple lipomas	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0001012	HP:0001012	Multiple lipomas	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0001012	HP:0001012	Multiple lipomas	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0001012	HP:0034009	Pelvic lipomatosis	1	CL E G H
HP:0001012	HP:0025476	Testicular lipomatosis	1	CL E G H
HP:0001012	HP:0006773	Cutaneous angiolipomas	1	CL E G H
HP:0001012	HP:0001031	Subcutaneous lipoma	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0001012	HP:0100251	Multiple central nervous system lipomas	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0001012	HP:0100251	Multiple central nervous system lipomas	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0001012	HP:0100251	Multiple central nervous system lipomas	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0001012	HP:0001031	Subcutaneous lipoma	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	385
HP:0001012	HP:0001031	Subcutaneous lipoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0001012	HP:0001031	Subcutaneous lipoma	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001012	HP:0100251	Multiple central nervous system lipomas	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001012	HP:0001031	Subcutaneous lipoma	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0001012	HP:0001031	Subcutaneous lipoma	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0001012	HP:0001031	Subcutaneous lipoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0001012	HP:0001031	Subcutaneous lipoma	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	948
HP:0001012	HP:0001031	Subcutaneous lipoma	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0001012	HP:0100251	Multiple central nervous system lipomas	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0001012	HP:0007596	Painful subcutaneous lipomas	2	CL E G H
HP:0001012	HP:0006866	Midline central nervous system lipomas	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0001012	HP:0006866	Midline central nervous system lipomas	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0001012	HP:0006866	Midline central nervous system lipomas	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0001012	HP:0006866	Midline central nervous system lipomas	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0001012	HP:0006931	Pericallosal lipoma	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional	5
HP:0001012	HP:0006931	Pericallosal lipoma	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0001012	HP:0006931	Pericallosal lipoma	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0001012	HP:0034014	Tubulonodular pericallosal lipoma	4	CL E G H
HP:0001012	HP:0034013	Curvilinear pericallosal lipoma	4	CL E G H

Genes (39) :ABCC6 AKT1 ALX1 ALX3 AP2S1 APC BMPR1A CCL2 CDKN1A CDKN1B CDKN2B CDKN2C ENPP1 FGFR1 FLCN FUZ GNA11 KRAS LEMD3 MEN1 MFN2 MSTO1 ND5 PIK3CA PTEN RNR1 SPRED1 TBXT TRNF TRNH TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 VANGL1 VANGL2 ZSWIM6

Diseases (30) :ORPHA:758 OMIM:615109 OMIM:176920 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:600740 OMIM:175100 ORPHA:79076 OMIM:182940 ORPHA:652 ORPHA:276152 ORPHA:2396 OMIM:613001 ORPHA:122 OMIM:135150 OMIM:145981 ORPHA:1879 OMIM:131100 ORPHA:2398 OMIM:617675 ORPHA:551 OMIM:615108 ORPHA:276280 OMIM:158350 ORPHA:2969 ORPHA:137605 OMIM:611431 ORPHA:1349 ORPHA:1827

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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