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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

Disease Browser
Parent Node: Anemia, Hemolytic (D000743)
Parent Node: Growth Disorders (D006130)
Parent Node: Iron Metabolism Disorders (D019189)
..Starting node ..Heme Oxygenase 1 Deficiency (C564200)
Child Nodes:
Sister Nodes:
..Anemia, Iron-Deficiency (D018798) 1
..Familial apoceruloplasmin deficiency (C536004)
..Heme Oxygenase 1 Deficiency (C564200)
..Hyperferritinemia, hereditary, with congenital cataracts (C538137)
..Iron Overload (D019190) 12
..NBIA2B (C565699)
..Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
..Neuroferritinopathy (C548080)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5006

Name:

Heme Oxygenase 1 Deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D000743|MESH:D006130|MESH:D019189

TreeNumbers:

C15.378.071.141/C564200 |C18.452.565/C564200 |C23.550.393/C564200

Synonyms:

Slim Mappings:

Blood disease|Metabolic disease|Pathology (process)

Reference:

MedGen: C564200
MeSH: C564200
OMIM: 614034;

Genes: HMOX1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001510	Growth delay
3	HP:0000790	Hematuria
4	HP:0001878	Hemolytic anemia
5	HP:0002240	Hepatomegaly
6	HP:0000093	Proteinuria

Disease Causing ClinVar Variants