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
..Hypopigmented macule (HP:0020073)

Term ID:

20073

Name:

Hypopigmented macule

Synonym:

Definition:

A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.

Comments:

Reference:

HP:0020073

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:0020073	HP:0020073	Hypopigmented macule	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0020073	HP:0020073	Hypopigmented macule	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0020073	HP:0020073	Hypopigmented macule	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0020073	HP:0020073	Hypopigmented macule	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0020073	HP:0020073	Hypopigmented macule	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0020073	HP:0020073	Hypopigmented macule	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0020073	HP:0020073	Hypopigmented macule	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0020073	HP:0020073	Hypopigmented macule	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0020073	HP:0020073	Hypopigmented macule	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0020073	HP:0020073	Hypopigmented macule	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0020073	HP:0020073	Hypopigmented macule	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0020073	HP:0020073	Hypopigmented macule	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0020073	HP:0020073	Hypopigmented macule	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0020073	HP:0020073	Hypopigmented macule	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0020073	HP:0020073	Hypopigmented macule	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0020073	HP:0020073	Hypopigmented macule	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0020073	HP:0020073	Hypopigmented macule	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0020073	HP:0020073	Hypopigmented macule	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0020073	HP:0020073	Hypopigmented macule	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0020073	HP:0020073	Hypopigmented macule	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0020073	HP:0020073	Hypopigmented macule	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0020073	HP:0020073	Hypopigmented macule	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0020073	HP:0020073	Hypopigmented macule	0	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2		2
HP:0020073	HP:0020073	Hypopigmented macule	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0020073	HP:0020073	Hypopigmented macule	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0020073	HP:0020073	Hypopigmented macule	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0020073	HP:0020073	Hypopigmented macule	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0020073	HP:0020073	Hypopigmented macule	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0020073	HP:0020073	Hypopigmented macule	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0020073	HP:0020073	Hypopigmented macule	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0020073	HP:0020073	Hypopigmented macule	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0020073	HP:0009719	Hypomelanotic macule	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0020073	HP:0009719	Hypomelanotic macule	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0020073	HP:0009719	Hypomelanotic macule	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	110
HP:0020073	HP:0009719	Hypomelanotic macule	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0020073	HP:0009719	Hypomelanotic macule	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	173
HP:0020073	HP:0009719	Hypomelanotic macule	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0020073	HP:0009719	Hypomelanotic macule	1	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2	.	2
HP:0020073	HP:0009719	Hypomelanotic macule	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	1090
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0020073	HP:0009719	Hypomelanotic macule	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0020073	HP:0009719	Hypomelanotic macule	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	2738
HP:0020073	HP:0007449	Confetti-like hypopigmented macules	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0020073	HP:0009719	Hypomelanotic macule	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0020073	HP:0030679	Ash-leaf spot	2	CL E G H

Genes (22) :ABCB6 CDKN1A CDKN1B CDKN2B CDKN2C ENPP1 EPHB4 FANCC IFNG KRT14 KRT5 MEN1 NF1 NONO PLEC POFUT1 POGLUT1 PSENEN RASA1 SPECC1L TSC1 TSC2

Diseases (18) :OMIM:615402 ORPHA:652 ORPHA:276152 OMIM:615522 ORPHA:137667 OMIM:227645 ORPHA:805 OMIM:613254 ORPHA:79399 ORPHA:79397 ORPHA:79145 OMIM:131100 OMIM:162200 ORPHA:466791 ORPHA:79401 OMIM:615327 OMIM:145420 OMIM:191100

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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