Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 blood transition element cation concentration (HP:0011030)

Parent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Abnormality of iron homeostasis (HP:0011031)

..Starting node
..Abnormal hepatic iron concentration (HP:0040134)

Term ID:

40134

Name:

Abnormal hepatic iron concentration

Synonym:

Abnormal liver iron concentration; Abnormal liver iron level

Definition:

Comments:

Reference:

HP:0040134

Genes and Diseases:

Child Nodes:

........

Elevated hepatic iron concentration (HP:0012465)

Sister Nodes:

Abnormal circulating ferritin concentration (HP:0040133)

Abnormal serum iron concentration (HP:0040130)

Abnormal transferrin saturation (HP:0040135)

Increased total iron binding capacity (HP:0025196)

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:0040134	HP:0040134	Abnormal hepatic iron concentration	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0040134	HP:0040134	Abnormal hepatic iron concentration	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent	115
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14		36
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0040134	HP:0012465	Elevated hepatic iron concentration	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent	1

Genes (8) :BCS1L CP FARS2 FOCAD GLRX5 HBB PIGA STEAP3

Diseases (9) :ORPHA:53693 ORPHA:48818 OMIM:614946 OMIM:619991 OMIM:616860 ORPHA:231222 OMIM:300868 OMIM:615234 ORPHA:300298

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen