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:
Abnormality of iron homeostasis (HP:0011031)

Parent Node:
Abnormal serum iron concentration (HP:0040130)

..Starting node
..Decreased serum iron (HP:0040303)

Term ID:

40303

Name:

Decreased serum iron

Synonym:

Low serum iron

Definition:

Comments:

Reference:

HP:0040303

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum iron (HP:0003452)

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:0040303	HP:0040303	Decreased serum iron	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0040303	HP:0040303	Decreased serum iron	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0040303	HP:0040303	Decreased serum iron	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0040303	HP:0040303	Decreased serum iron	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0040303	HP:0040303	Decreased serum iron	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0040303	HP:0040303	Decreased serum iron	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0040303	HP:0040303	Decreased serum iron	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	HP:0040283 - Occasional
HP:0040303	HP:0040303	Decreased serum iron	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28

Genes (7) :CARD9 COL7A1 CP FOXP1 PIGA SKIC2 TRNT1

Diseases (8) :OMIM:212050 ORPHA:89842 OMIM:604290 ORPHA:48818 ORPHA:391372 ORPHA:447 OMIM:614602 OMIM:616959

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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