Gene: Hmox1 MGI:96163

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Gene Summary

Name:
heme oxygenase 1
Synonyms:
Hsp32,  HO-1,  heme oxygenase 1,  D8Wsu38e,  Hmox,  HO1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Hmox1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta size Hmox1em1(IMPC)Mbp HOM E18.5 0.00
preweaning lethality, incomplete penetrance Hmox1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal craniofacial morphology Hmox1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Hmox1em1(IMPC)Mbp HET E15.5 0.00
microphthalmia Hmox1em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Hmox1em1(IMPC)Mbp HET E15.5 0.00
abnormal head shape Hmox1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Hmox1em1(IMPC)Mbp HOM E15.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Hmox1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hmox1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heme Oxygenase 1 Deficiency
OMIM:614034
Cystic Fibrosis
ORPHA:586
Pulmonary Disease, Chronic Obstructive
OMIM:606963

The table below shows human diseases predicted to be associated to Hmox1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
OMIM:618312
Diamond-Blackfan Anemia-Like
OMIM:617911
Transient Erythroblastopenia Of Childhood
OMIM:227050
Autoimmune Lymphoproliferative Syndrome, Type Iii
OMIM:615559
Methemoglobin Reductase Deficiency
OMIM:250700
Atr-16 syndrome
DECIPHER:65
Nanophthalmos 1
OMIM:600165
Microphthalmia, Isolated 7
OMIM:613704
Nanophthalmos 2
OMIM:609549
Diamond-Blackfan Anemia 17
OMIM:617409
Hemoglobin-Delta locus
OMIM:142000
Diamond-Blackfan Anemia 18
OMIM:618310
Hemochromatosis, Type 2B
OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
ORPHA:766
Diamond-Blackfan Anemia 13
OMIM:615909
Danon Disease
OMIM:300257
Beta-Thalassemia
ORPHA:848
Igg4-Related Retroperitoneal Fibrosis
ORPHA:49041
Nephrotic Syndrome, Type 7
OMIM:615008
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
OMIM:206000
Complement Component 4B Deficiency
OMIM:614379
Hepatocellular Carcinoma
OMIM:114550
Cirrhosis, Familial
OMIM:118900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
OMIM:205950
Complement Component C1S Deficiency
OMIM:613783
Anemia, Hypochromic Microcytic, With Iron Overload 1
OMIM:206100
Anemia, Sideroblastic, 4
OMIM:182170
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
OMIM:616860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
ORPHA:444463
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
OMIM:619375
Glycoprotein Storage Disease
OMIM:232900
Beta-Thalassemia Intermedia
ORPHA:231222
Acyl-Coa Dehydrogenase 9 Deficiency
ORPHA:99901
Sickle Cell Anemia
ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
OMIM:604416
Neutropenia, Severe Congenital, 5, Autosomal Recessive
OMIM:615285
Familial Dilated Cardiomyopathy
ORPHA:217607
Histiocytosis, Progressive Mucinous
OMIM:142630
Dominant Beta-Thalassemia
ORPHA:231226
Neutropenia-Monocytopenia-Deafness Syndrome
ORPHA:2690
Majeed Syndrome
OMIM:609628
Cyanosis And Hepatic Disease
OMIM:219400
Heinz Body Anemias
OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome
ORPHA:231249
X-Linked Sideroblastic Anemia
ORPHA:75563
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
OMIM:247800
Anemia, Congenital Dyserythropoietic, Type Ib
OMIM:615631
Idiopathic/Heritable Pulmonary Arterial Hypertension
ORPHA:422
Focal Segmental Glomerulosclerosis 1
OMIM:603278
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
OMIM:619355
Halothane Hepatitis
OMIM:234350
Idiopathic Non-Lupus Full-House Nephropathy
ORPHA:567544
Majeed Syndrome
ORPHA:77297
Autoinflammation With Episodic Fever And Lymphadenopathy
OMIM:618852
Immunodeficiency, Common Variable, 6
OMIM:613496
Anemia, Congenital Dyserythropoietic, Type Ia
OMIM:224120
Lysosomal Acid Lipase Deficiency
OMIM:278000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
OMIM:613092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
ORPHA:37042
Refractory Celiac Disease
ORPHA:398063
Autoimmune Disease, Multisystem, Infantile-Onset, 2
OMIM:617006
Osteopetrosis, Autosomal Recessive 5
OMIM:259720
Triokinase And Fmn Cyclase Deficiency Syndrome
OMIM:618805
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
ORPHA:85275
Rajab Interstitial Lung Disease With Brain Calcifications 2
OMIM:619013
Delta-Beta-Thalassemia
ORPHA:231237
Bile Acid Synthesis Defect, Congenital, 5
OMIM:616278
Lymphoproliferative Syndrome, X-Linked, 2
OMIM:300635
Alpha-Thalassemia
ORPHA:846
Mitochondrial Complex I Deficiency, Nuclear Type 20
OMIM:611126
Cystic Echinococcosis
ORPHA:400
Hemochromatosis, Type 2A
OMIM:602390
Alpha-Thalassemia-Myelodysplastic Syndrome
ORPHA:231401
Fetal Cytomegalovirus Syndrome
ORPHA:294
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
OMIM:254900
Alg1-Cdg
ORPHA:79327
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
OMIM:304790
Peripartum Cardiomyopathy
ORPHA:563
Tubulointerstitial Nephritis With Uveitis
OMIM:607665
Hemoglobin C-Beta-Thalassemia Syndrome
ORPHA:231242
Coenzyme Q10 Deficiency, Primary, 1
OMIM:607426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
OMIM:253700
Mucopolysaccharidosis-Plus Syndrome
OMIM:617303
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
ORPHA:228308
Alpha-1-Antitrypsin Deficiency
ORPHA:60
Carnitine Palmitoyltransferase Ii Deficiency
ORPHA:157
Hemochromatosis, Type 3
OMIM:604250
Symptomatic Form Of Hemochromatosis Type 1
ORPHA:465508
Macrosomia With Microphthalmia, Lethal
OMIM:248110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
OMIM:608971
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
OMIM:300908
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
OMIM:618528
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
ORPHA:228302
Niemann-Pick Disease, Type A
OMIM:257200
Autoinflammation, Immune Dysregulation, And Eosinophilia
OMIM:618999
Mitochondrial Dna Depletion Syndrome 18
OMIM:618811
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
ORPHA:79312
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
OMIM:618495
Papular Xanthoma
ORPHA:158008
Hypertriglyceridemia, Transient Infantile
OMIM:614480
Microphthalmia, Isolated, With Coloboma 7
OMIM:614497
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
ORPHA:370
Wilson Disease
ORPHA:905
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
ORPHA:86841
Apolipoprotein A-I Deficiency
ORPHA:425
Legionnaires Disease
ORPHA:549
Beta-Thalassemia Major
ORPHA:231214
Leukocyte Adhesion Deficiency, Type Iii
OMIM:612840
Immunodeficiency 27A
OMIM:209950
Atrial Septal Defect, Sinus Venosus Type
ORPHA:99105
Bile Acid Synthesis Defect, Congenital, 3
OMIM:613812
H Syndrome
ORPHA:168569
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
ORPHA:264580
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
OMIM:600462
Nanophthalmos 4
OMIM:615972
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
OMIM:251900
Congenital Disorder Of Glycosylation, Type Iio
OMIM:616828
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
OMIM:266920
Autosomal Erythropoietic Protoporphyria
ORPHA:79278
Thrombocytopenia With Congenital Dyserythropoietic Anemia
ORPHA:67044
Chromosome 5Q Deletion Syndrome
OMIM:153550
Hemochromatosis, Neonatal
OMIM:231100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
ORPHA:2274
Lysinuric Protein Intolerance
ORPHA:470
Left Ventricular Noncompaction 7
OMIM:615092
Nephrotic Syndrome, Type 14
OMIM:617575
Pancytopenia And Occlusive Vascular Disease
OMIM:167850
Primary Myelofibrosis
ORPHA:824
Cleidocranial Dysplasia, Recessive Form
OMIM:216330
Vitamin B12-Responsive Methylmalonic Acidemia
ORPHA:28
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
OMIM:618920
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
ORPHA:367
X-Linked Agammaglobulinemia
ORPHA:47
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
OMIM:617156
Neonatal Hemochromatosis
ORPHA:446
Hemochromatosis Type 2
ORPHA:79230
Drug-Induced Lupus Erythematosus
ORPHA:231111
Brucellosis
ORPHA:1304
Acetophenetidin Sensitivity
OMIM:200300
Immunodeficiency 48
OMIM:269840
Autoimmune Hepatitis
ORPHA:2137
Hyperbilirubinemia, Shunt, Primary
OMIM:237800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
ORPHA:369
3-Methylglutaconic Aciduria, Type V
OMIM:610198
Bacterial Toxic-Shock Syndrome
ORPHA:36234
Galactosemia
ORPHA:352
Hereditary Spherocytosis
ORPHA:822
Lipodystrophy, Partial, Acquired, Susceptibility To
OMIM:608709
Severe Generalized Junctional Epidermolysis Bullosa
ORPHA:79404
Porphyria Cutanea Tarda
ORPHA:101330
Systemic Lupus Erythematosus
OMIM:152700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
OMIM:174000
Anemia, Congenital Dyserythropoietic, Type Iv
OMIM:613673
Avian Influenza
ORPHA:454836
Transaldolase Deficiency
OMIM:606003
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
OMIM:618321
Caroli Disease
ORPHA:53035
Microphthalmia, Isolated, With Cataract 1
OMIM:156850
Retinitis Pigmentosa 59
OMIM:613861
Congenital Bile Acid Synthesis Defect Type 3
ORPHA:79302
Drug Rash With Eosinophilia And Systemic Symptoms
ORPHA:139402
Pyruvate Dehydrogenase E3 Deficiency
ORPHA:2394
Klippel-Trénaunay Syndrome
ORPHA:90308
Atrial Septal Defect, Ostium Primum Type
ORPHA:99106
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
ORPHA:69063
Mu-Heavy Chain Disease
ORPHA:100024
Nephrotic Syndrome, Type 23
OMIM:619201
Microphthalmia, Isolated, With Coloboma 6
OMIM:613703
Congenital Disorder Of Glycosylation, Type Iij
OMIM:613489
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
ORPHA:228305
Splenoportal Vascular Anomalies
OMIM:271500
Lcat Deficiency
ORPHA:650
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
ORPHA:247691
Bardet-Biedl Syndrome 16
OMIM:615993
Microphthalmia, Isolated 1
OMIM:251600
Schimke Immuno-Osseous Dysplasia
ORPHA:1830
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
OMIM:603529
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
OMIM:601493
Spinocerebellar Ataxia, Autosomal Recessive 21
OMIM:616719
Thrombocytopenia With Elevated Serum Iga And Renal Disease
OMIM:314000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
OMIM:251880
Atrial Septal Defect, Ostium Secundum Type
ORPHA:99103
Igg4-Related Kidney Disease
ORPHA:449395
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
ORPHA:289916
Purine Nucleoside Phosphorylase Deficiency
OMIM:613179
Autoimmune Interstitial Lung, Joint, And Kidney Disease
OMIM:616414
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
OMIM:619175
Babesiosis
ORPHA:108
Idiopathic Steroid-Resistant Nephrotic Syndrome
ORPHA:567548
Vitamin B12-Unresponsive Methylmalonic Acidemia
ORPHA:27
Malaria
ORPHA:673
Congenital Dyserythropoietic Anemia Type Iii
ORPHA:98870
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
OMIM:613759
Focal Segmental Glomerulosclerosis 6
OMIM:614131
Adult-Onset Still Disease
ORPHA:829
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
ORPHA:300298
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
OMIM:194380
Corticosteroid-Sensitive Aseptic Abscess Syndrome
ORPHA:54251
C3 Glomerulopathy
ORPHA:329918
Combined Oxidative Phosphorylation Deficiency 30
OMIM:616974
Cardiomyopathy, Dilated, 1R
OMIM:613424
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
ORPHA:2802
Thanatophoric Dysplasia, Glasgow Variant
OMIM:273680
Autosomal Recessive Polycystic Kidney Disease
ORPHA:731
Whipple Disease
ORPHA:3452
Nephrotic Syndrome, Type 15
OMIM:617609
Hemophagocytic Lymphohistiocytosis, Familial, 4
OMIM:603552
Focal Segmental Glomerulosclerosis 10
OMIM:256020
Premature Ovarian Failure 12
OMIM:616947
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
OMIM:619398
Trimethylaminuria
OMIM:602079
Nephrotic Syndrome, Type 10
OMIM:615861
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
ORPHA:98791
Citrullinemia, Type Ii, Adult-Onset
OMIM:603471
Left Ventricular Noncompaction 8
OMIM:615373
Tubulointerstitial Nephritis And Uveitis Syndrome
ORPHA:91500
Tyrosinemia, Type I
OMIM:276700
Thrombotic Thrombocytopenic Purpura, Hereditary
OMIM:274150
Hypermethioninemia Due To Adenosine Kinase Deficiency
OMIM:614300
Preeclampsia
ORPHA:275555
Hypouricemia, Renal, 1
OMIM:220150
Nephrotic Syndrome, Type 24
OMIM:619263
Autoimmune Lymphoproliferative Syndrome
ORPHA:3261
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
OMIM:619147
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
OMIM:615630
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 2
OMIM:615234
Nephrotic Syndrome, Type 2
OMIM:600995
Hemochromatosis, Type 1
OMIM:235200
Immunodeficiency 69
OMIM:618963
Rhabdoid Tumor
ORPHA:69077
Glycogen Storage Disease Iv
OMIM:232500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
OMIM:616335
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
ORPHA:231393
Pulmonary Nodular Lymphoid Hyperplasia
ORPHA:60026
Hemoglobin H Disease
OMIM:613978
Microphthalmia, Isolated, With Coloboma 4
OMIM:251505
Paternal Uniparental Disomy Of Chromosome 1
ORPHA:251004
Nephrotic Syndrome, Type 1
OMIM:256300
Nephrotic Syndrome, Type 9
OMIM:615573
Thrombotic Thrombocytopenic Purpura
ORPHA:54057
Lethal Infantile Mitochondrial Myopathy
ORPHA:254857
Candidiasis, Familial, 2
OMIM:212050
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
OMIM:206400
Acquired Idiopathic Sideroblastic Anemia
ORPHA:75564
Griscelli Syndrome
ORPHA:381
Dehydrated Hereditary Stomatocytosis
ORPHA:3202
Pgm3-Cdg
ORPHA:443811
Gombo Syndrome
OMIM:233270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
OMIM:612926
Desmoplastic Small Round Cell Tumor
ORPHA:83469
Diffuse Neonatal Hemangiomatosis
ORPHA:2123
Gracile Syndrome
OMIM:603358
Progeria-Short Stature-Pigmented Nevi Syndrome
ORPHA:2959
Lujo Hemorrhagic Fever
ORPHA:319213
Overhydrated Hereditary Stomatocytosis
ORPHA:3203
Anemia, Sideroblastic, 1
OMIM:300751
Hemophagocytic Lymphohistiocytosis, Familial, 3
OMIM:608898
Congenital Enterovirus Infection
ORPHA:292
Complement Component 3 Deficiency, Autosomal Recessive
OMIM:613779
Wilson Disease
OMIM:277900
Coach Syndrome 1
OMIM:216360
Neutropenia, Severe Congenital, 1, Autosomal Dominant
OMIM:202700
Galloway-Mowat Syndrome 8
OMIM:618349
Adenosine Triphosphatase Deficiency, Anemia Due To
OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
OMIM:206300
Congenital Disorder Of Glycosylation, Type Ia
OMIM:212065
Left Ventricular Noncompaction 10
OMIM:615396
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
ORPHA:258
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
OMIM:612631
6-Phosphogluconolactonase Deficiency
OMIM:172150
Atrial Septal Defect, Coronary Sinus Type
ORPHA:99104
Orotic Aciduria
OMIM:258900
Senior-Loken Syndrome
ORPHA:3156
Q Fever
ORPHA:781
Schimke Immunoosseous Dysplasia
OMIM:242900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
OMIM:613101
Immunodeficiency 52
OMIM:617514
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
OMIM:615160
Galloway-Mowat Syndrome 2, X-Linked
OMIM:301006
Nephronophthisis
ORPHA:655
Lysosomal Acid Lipase Deficiency
ORPHA:275761
Coach Syndrome 3
OMIM:619113
Focal Segmental Glomerulosclerosis 2
OMIM:603965
Ethylene Glycol Poisoning
ORPHA:31826
Dilated Cardiomyopathy With Ataxia
ORPHA:66634
Bile Acid Synthesis Defect, Congenital, 4
OMIM:214950
Citrullinemia Type Ii
ORPHA:247585
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
OMIM:308990
C3 Glomerulopathy 3
OMIM:614809
Medium Chain Acyl-Coa Dehydrogenase Deficiency
ORPHA:42
African Iron Overload
ORPHA:139507
Nephrotic Syndrome, Type 17
OMIM:618176
Omenn Syndrome
OMIM:603554
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
OMIM:618278
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
ORPHA:541423
Acute Erythroid Leukemia
ORPHA:318
Aceruloplasminemia
ORPHA:48818
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
OMIM:617021
Congenital Bile Acid Synthesis Defect Type 2
ORPHA:79303
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
ORPHA:466794
Acute Disseminated Encephalomyelitis
ORPHA:83597
Nephronophthisis 19
OMIM:616217
Wolman Disease
ORPHA:75233
Multicentric Reticulohistiocytosis
ORPHA:139436
Eosinophilia, Familial
OMIM:131400
Galactosemia Iii
OMIM:230350
Syndromic Diarrhea
ORPHA:84064
Infantile Liver Failure Syndrome 2
OMIM:616483
Osteopetrosis, Autosomal Recessive 2
OMIM:259710
Cog4-Cdg
ORPHA:263501
Interstitial Nephritis, Karyomegalic
OMIM:614817
Mantle Cell Lymphoma
ORPHA:52416
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
OMIM:263200
Trichohepatoenteric Syndrome 1
OMIM:222470
Reticuloendotheliosis, X-Linked
OMIM:312500
Ataxia-Pancytopenia Syndrome
ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iq
OMIM:612379
Nephrotic Syndrome, Type 18
OMIM:618177
Iron-Refractory Iron Deficiency Anemia
OMIM:206200
Glutathione Peroxidase Deficiency
OMIM:614164
Dihydrolipoamide Dehydrogenase Deficiency
OMIM:246900
Nephrotic Syndrome, Type 19
OMIM:618178
Liver Failure, Infantile, Transient
OMIM:613070
Focal Segmental Glomerulosclerosis 8
OMIM:616032
Nephrotic Syndrome, Type 20
OMIM:301028
Isolated Agammaglobulinemia
ORPHA:229717
Carnitine Palmitoyl Transferase 1A Deficiency
ORPHA:156
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
OMIM:300064
Senior-Loken Syndrome 9
OMIM:616629
Renal-Hepatic-Pancreatic Dysplasia 2
OMIM:615415
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
OMIM:237300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
OMIM:201450
Tularemia
ORPHA:3392
Omenn Syndrome
ORPHA:39041
Focal Segmental Glomerulosclerosis 7
OMIM:616002
Congenital Disorder Of Glycosylation, Type Iip
OMIM:616829
Nephrotic Syndrome, Type 13
OMIM:616893
Aspergillosis
ORPHA:1163
Cryoglobulinemic Vasculitis
ORPHA:91138
Atypical Hemolytic Uremic Syndrome
ORPHA:2134
Hyperlipoproteinemia, Type Id
OMIM:615947
Amoebiasis Due To Free-Living Amoebae
ORPHA:68
Microsporidiosis
ORPHA:2552
Congenital Disorder Of Glycosylation, Type Iir
OMIM:301045
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
OMIM:182690
Immunodeficiency With Hyper-Igm, Type 1
OMIM:308230
Leishmaniasis
ORPHA:507
Lecithin:Cholesterol Acyltransferase Deficiency
OMIM:245900
Cortical Dysplasia, Complex, With Other Brain Malformations 6
OMIM:615771
Primary Sjögren Syndrome
ORPHA:289390
Ebola Hemorrhagic Fever
ORPHA:319218
Bardet-Biedl Syndrome 10
OMIM:615987
Nephrotic Syndrome, Type 11
OMIM:616730
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
OMIM:311250
Reversible Cerebral Vasoconstriction Syndrome
ORPHA:284388
Isolated Sedoheptulokinase Deficiency
ORPHA:440713
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
OMIM:612075
Combined Immunodeficiency Due To Zap70 Deficiency
ORPHA:911
Lesch-Nyhan Syndrome
ORPHA:510
Lipoyltransferase 1 Deficiency
OMIM:616299
Charcot-Marie-Tooth Disease, Dominant Intermediate E
OMIM:614455
Porphyria Cutanea Tarda, Type I
OMIM:176090
Mitochondrial Neurogastrointestinal Encephalomyopathy
ORPHA:298
Mitochondrial Dna Depletion Syndrome 17
OMIM:618567
Neonatal Lupus Erythematosus
ORPHA:398124
Cockayne Syndrome Type 1
ORPHA:90321
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
ORPHA:309854
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
OMIM:251700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
ORPHA:95455
Congenital Erythropoietic Porphyria
ORPHA:79277
Nephrolithiasis, X-Linked Recessive, With Renal Failure
OMIM:310468
Plin1-Related Familial Partial Lipodystrophy
ORPHA:280356
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
OMIM:236270
Erythroleukemia, Familial, Susceptibility To
OMIM:133180
Combined Oxidative Phosphorylation Deficiency 52
OMIM:619386
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
OMIM:602114
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
OMIM:612714
Primary Sclerosing Cholangitis
ORPHA:171
Hepatitis, Fulminant Viral, Susceptibility To
OMIM:618549
Fadd-Related Immunodeficiency
ORPHA:306550
Hypermanganesemia With Dystonia 1
OMIM:613280
Galactose Mutarotase Deficiency
ORPHA:570422
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
OMIM:618451
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
OMIM:250940
Wiskott-Aldrich Syndrome
ORPHA:906
Laurence-Moon Syndrome
ORPHA:2377
Srd5A3-Cdg
ORPHA:324737
Alpha-Heavy Chain Disease
ORPHA:100025
Caroli Syndrome
ORPHA:480520
Acute Monoblastic/Monocytic Leukemia
ORPHA:514
Coach Syndrome 2
OMIM:619111
Mevalonic Aciduria
OMIM:610377
Microphthalmia, Isolated, With Coloboma 10
OMIM:616428
Cholestasis, Progressive Familial Intrahepatic, 5
OMIM:617049
Cholestasis-Lymphedema Syndrome
OMIM:214900
Cholesteryl Ester Storage Disease
ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ir
OMIM:614507
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
OMIM:235400
Lymphatic Filariasis
ORPHA:2035
Focal Segmental Glomerulosclerosis 5
OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
OMIM:607832
Felty Syndrome
ORPHA:47612
Autoimmune Lymphoproliferative Syndrome, Type Iia
OMIM:603909
Maternal Uniparental Disomy Of Chromosome X
ORPHA:261519
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
OMIM:614376
Acatalasemia
ORPHA:926
Immunodeficiency 23
OMIM:615816
Galloway-Mowat Syndrome 5
OMIM:617731
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
ORPHA:369847
Congenital Disorder Of Glycosylation, Type Ih
OMIM:608104
Bile Acid Synthesis Defect, Congenital, 1
OMIM:607765
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
ORPHA:169160
Combined Oxidative Phosphorylation Deficiency 42
OMIM:618839
Farber Disease
ORPHA:333
Anti-Glomerular Basement Membrane Disease
ORPHA:375
Aredyld Syndrome
ORPHA:1133
Microphthalmia, Isolated, With Coloboma 5
OMIM:611638
Renal-Hepatic-Pancreatic Dysplasia 1
OMIM:208540
Combined Oxidative Phosphorylation Deficiency 40
OMIM:618835
Nephronophthisis 11
OMIM:613550
Wolcott-Rallison Syndrome
ORPHA:1667
Glycogen Storage Disease Ib
OMIM:232220
Shwachman-Diamond Syndrome 1
OMIM:260400
Mitochondrial Complex I Deficiency, Nuclear Type 29
OMIM:618250
Mccune-Albright Syndrome
ORPHA:562
Pseudo-Torch Syndrome 3
OMIM:618886
Goodpasture Syndrome
OMIM:233450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
OMIM:613845
Thyrocerebrorenal Syndrome
ORPHA:3327
Focal Segmental Glomerulosclerosis 9
OMIM:616220
Pauci-Immune Glomerulonephritis
ORPHA:93126
Kcnq2-Related Epileptic Encephalopathy
ORPHA:439218
Lymphoproliferative Syndrome, X-Linked, 1
OMIM:308240
Immunodeficiency, Common Variable, 1
OMIM:607594
Congenital Disorder Of Glycosylation, Type Ib
OMIM:602579
Refractory Anemia
ORPHA:98826
Mitochondrial Dna Depletion Syndrome 19
OMIM:618972
Left Ventricular Noncompaction 1
OMIM:604169
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
OMIM:613404
Cardiomyopathy, Dilated, 1D
OMIM:601494
Focal Segmental Glomerulosclerosis 4, Susceptibility To
OMIM:612551
C1Q Deficiency
OMIM:613652
Nephropathy-Deafness-Hyperparathyroidism Syndrome
ORPHA:2668
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
ORPHA:71212
Sea-Blue Histiocyte Disease
OMIM:269600
Galactose Epimerase Deficiency
ORPHA:79238
Nephrotic Syndrome, Type 3
OMIM:610725
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
OMIM:616084
Niemann-Pick Disease, Type B
OMIM:607616
Microphthalmia, Isolated, With Coloboma 3
OMIM:610092
Bile Acid Conjugation Defect 1
OMIM:619232
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
ORPHA:2172
Methylcobalamin Deficiency Type Cble
ORPHA:2169
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
ORPHA:293967
Tyrosinemia Type 1
ORPHA:882
Glycogen Storage Disease Iii
OMIM:232400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
ORPHA:1046
Galloway-Mowat Syndrome 7
OMIM:618348
Hypocomplementemic Urticarial Vasculitis
ORPHA:36412
Portal Hypertension, Noncirrhotic, 1
OMIM:617068
Bone Marrow Failure Syndrome 2
OMIM:615715
Mitochondrial Complex I Deficiency, Nuclear Type 1
OMIM:252010
Marfanoid Habitus With Microcephaly And Glomerulonephritis
OMIM:248760
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
OMIM:612158
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
OMIM:613913
Harderoporphyria
OMIM:618892
Gaucher Disease, Atypical, Due To Saposin C Deficiency
OMIM:610539
Acquired Purpura Fulminans
ORPHA:49566
Graft Versus Host Disease
ORPHA:39812
3-Methylglutaconic Aciduria Type 4
ORPHA:67048
Autoimmune Polyendocrinopathy Type 4
ORPHA:227990
Carnitine-Acylcarnitine Translocase Deficiency
ORPHA:159
Blue Rubber Bleb Nevus
ORPHA:1059
Oculorenocerebellar Syndrome
OMIM:257970
Anemia, Congenital Dyserythropoietic, Type Ii
OMIM:224100
Castleman Disease
ORPHA:160
Isolated Biliary Atresia
ORPHA:30391
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
OMIM:610199
Hepatic Veno-Occlusive Disease
ORPHA:890
Immunodeficiency 56
OMIM:615207
Immunodeficiency By Defective Expression Of Mhc Class Ii
ORPHA:572
Cronkhite-Canada Syndrome
ORPHA:2930
Nephronophthisis 16
OMIM:615382
Autoimmune Polyendocrinopathy Type 3
ORPHA:227982
Isobutyryl-Coa Dehydrogenase Deficiency
OMIM:611283
Late-Onset Isolated Acth Deficiency
ORPHA:199299
Renal Failure, Progressive, With Hypertension
OMIM:161900
Nephrotic Syndrome, Type 6
OMIM:614196
Dehydrated Hereditary Stomatocytosis 2
OMIM:616689
Leukocyte Adhesion Deficiency Type Ii
ORPHA:99843
Maple Syrup Urine Disease
OMIM:24860