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

..Starting node
..Peripheral cyanosis (HP:0034033)

Term ID:

34033

Name:

Peripheral cyanosis

Synonym:

Definition:

Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.

Comments:

Reference:

HP:0034033

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034033	HP:0034033	Peripheral cyanosis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0034033	HP:0034033	Peripheral cyanosis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0034033	HP:0034033	Peripheral cyanosis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0034033	HP:0034033	Peripheral cyanosis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0034033	HP:0034033	Peripheral cyanosis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0034033	HP:0034033	Peripheral cyanosis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0034033	HP:0034033	Peripheral cyanosis	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0034033	HP:0034033	Peripheral cyanosis	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0034033	HP:0034033	Peripheral cyanosis	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0034033	HP:0034033	Peripheral cyanosis	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0034033	HP:0034033	Peripheral cyanosis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0034033	HP:0034033	Peripheral cyanosis	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0034033	HP:0034033	Peripheral cyanosis	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0034033	HP:0034033	Peripheral cyanosis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0034033	HP:0034033	Peripheral cyanosis	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0034033	HP:0034033	Peripheral cyanosis	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0034033	HP:0034033	Peripheral cyanosis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0034033	HP:0034033	Peripheral cyanosis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0034033	HP:0034033	Peripheral cyanosis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0034033	HP:0034033	Peripheral cyanosis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0034033	HP:0034033	Peripheral cyanosis	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0034033	HP:0034033	Peripheral cyanosis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0034033	HP:0034033	Peripheral cyanosis	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy
HP:0034033	HP:0034033	Peripheral cyanosis	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0034033	HP:0034033	Peripheral cyanosis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0034033	HP:0034033	Peripheral cyanosis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0034033	HP:0001063	Acrocyanosis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0034033	HP:0001063	Acrocyanosis	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0034033	HP:0001063	Acrocyanosis	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0034033	HP:0001063	Acrocyanosis	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0034033	HP:0001063	Acrocyanosis	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0034033	HP:0001063	Acrocyanosis	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0034033	HP:0001063	Acrocyanosis	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0034033	HP:0001063	Acrocyanosis	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0034033	HP:0001063	Acrocyanosis	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0034033	HP:0001063	Acrocyanosis	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040283 - Occasional	43
HP:0034033	HP:0001063	Acrocyanosis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0034033	HP:0034031	Facial cyanosis	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0034033	HP:0034031	Facial cyanosis	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0034033	HP:0001063	Acrocyanosis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0034033	HP:0001063	Acrocyanosis	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0034033	HP:0001063	Acrocyanosis	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional	59
HP:0034033	HP:0001063	Acrocyanosis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0034033	HP:0001063	Acrocyanosis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0034033	HP:0001063	Acrocyanosis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0034033	HP:0001063	Acrocyanosis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0034033	HP:0001063	Acrocyanosis	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0034033	HP:0001063	Acrocyanosis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0034033	HP:0001063	Acrocyanosis	1	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0034033	HP:0001063	Acrocyanosis	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent	241
HP:0034033	HP:0001063	Acrocyanosis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0034033	HP:0001063	Acrocyanosis	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0034033	HP:0034030	Lip cyanosis	2	CL E G H
HP:0034033	HP:0032556	Circumoral cyanosis	2	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	528
HP:0034033	HP:0032556	Circumoral cyanosis	2	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	302

Genes (23) :ADAR AGXT COL1A1 COL5A1 COL5A2 ELP1 ETHE1 FUCA1 IFIH1 KCNQ2 KCNQ3 LSM11 MVK PAX3 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPS6KA3 SAMHD1 SEPTIN9 TCF4 TREX1

Diseases (15) :ORPHA:51 OMIM:259900 ORPHA:287 ORPHA:1764 OMIM:223900 OMIM:602473 ORPHA:51188 ORPHA:349 ORPHA:1949 ORPHA:343 ORPHA:896 OMIM:303600 ORPHA:2901 ORPHA:2896 OMIM:225750

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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