Human Phenotype Ontology

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:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4		2
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome		1
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001001	HP:0001001	Abnormality of subcutaneous fat tissue	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0001001	HP:0001031	Subcutaneous lipoma	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0001001	HP:0025383	Dorsocervical fat pad	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0001001	HP:0025383	Dorsocervical fat pad	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0001001	HP:0025383	Dorsocervical fat pad	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001001	HP:0001031	Subcutaneous lipoma	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	385
HP:0001001	HP:0025383	Dorsocervical fat pad	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0001001	HP:0025383	Dorsocervical fat pad	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001001	HP:0001031	Subcutaneous lipoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0001001	HP:0001031	Subcutaneous lipoma	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0001001	HP:0025383	Dorsocervical fat pad	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0001001	HP:0001031	Subcutaneous lipoma	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001001	HP:0025383	Dorsocervical fat pad	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0001001	HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001001	HP:0001031	Subcutaneous lipoma	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0001001	HP:0009003	Increased subcutaneous truncal adipose tissue	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0001001	HP:0025383	Dorsocervical fat pad	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0001001	HP:0001031	Subcutaneous lipoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0001001	HP:0001031	Subcutaneous lipoma	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	948
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0001001	HP:0001031	Subcutaneous lipoma	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0001001	HP:0007552	Abnormal subcutaneous fat tissue distribution	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0001001	HP:0025383	Dorsocervical fat pad	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001001	HP:0025383	Dorsocervical fat pad	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional	7
HP:0001001	HP:0025383	Dorsocervical fat pad	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0001001	HP:0025383	Dorsocervical fat pad	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001001	HP:0025383	Dorsocervical fat pad	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001001	HP:0003758	Reduced subcutaneous adipose tissue	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0001001	HP:0007596	Painful subcutaneous lipomas	2	CL E G H
HP:0001001	HP:0003717	Minimal subcutaneous fat	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0001001	HP:0005995	Decreased adipose tissue around neck	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0001001	HP:0003717	Minimal subcutaneous fat	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0001001	HP:0003717	Minimal subcutaneous fat	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001001	HP:0003717	Minimal subcutaneous fat	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0001001	HP:0005995	Decreased adipose tissue around neck	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0001001	HP:0005320	Lack of facial subcutaneous fat	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11