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:
Abnormal adipose tissue morphology (HP:0009124)

Grandparent Node:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Abnormality of subcutaneous fat tissue (HP:0001001)

..Starting node
..Dorsocervical fat pad (HP:0025383)

Term ID:

25383

Name:

Dorsocervical fat pad

Synonym:

Buffalo hump

Definition:

An area of fat accumulation at the back of the neck in the form of a hump.

Comments:

Reference:

HP:0025383

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal subcutaneous fat tissue distribution (HP:0007552)

Increased subcutaneous truncal adipose tissue (HP:0009003)

Reduced subcutaneous adipose tissue (HP:0003758)

Subcutaneous lipoma (HP:0001031)

Yellow subcutaneous tissue covered by thin, scaly skin (HP:0007525)

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:0025383	HP:0025383	Dorsocervical fat pad	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0025383	HP:0025383	Dorsocervical fat pad	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0025383	HP:0025383	Dorsocervical fat pad	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0025383	HP:0025383	Dorsocervical fat pad	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0025383	HP:0025383	Dorsocervical fat pad	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0025383	HP:0025383	Dorsocervical fat pad	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0025383	HP:0025383	Dorsocervical fat pad	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0025383	HP:0025383	Dorsocervical fat pad	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0025383	HP:0025383	Dorsocervical fat pad	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0025383	HP:0025383	Dorsocervical fat pad	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional	7
HP:0025383	HP:0025383	Dorsocervical fat pad	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0025383	HP:0025383	Dorsocervical fat pad	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0025383	HP:0025383	Dorsocervical fat pad	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7

Genes (16) :ALMS1 ARMC5 ATRX BRAF CDH23 GNAS NR3C1 PDE11A PDE8B PPP1R15B PRKACA PRKAR1A TP53 TRMT10A USP48 USP8

Diseases (8) :ORPHA:64 ORPHA:189427 ORPHA:96253 ORPHA:1359 ORPHA:189439 ORPHA:391408 OMIM:615830 OMIM:616033

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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