Gene: Bmi1 MGI:88174

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Gene Summary

Name:
Bmi1 polycomb ring finger oncogene
Synonyms:
Bmi-1,  Bmi1,  Pcgf4

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
preweaning lethality, incomplete penetrance Bmi1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
microphthalmia Bmi1tm1.1(KOMP)Vlcg HOM E15.5 0.00
edema Bmi1tm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Bmi1tm1.1(KOMP)Vlcg HET E15.5 0.00
abnormal embryo size Bmi1tm1.1(KOMP)Vlcg HET E15.5 0.00
edema Bmi1tm1.1(KOMP)Vlcg HET E15.5 0.00
abnormal embryo size Bmi1tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 50% (2 of 4)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Adult LacZ

LacZ Images Section

121 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Human diseases caused by Bmi1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bmi1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
OMIM:615709
Familial Scheuermann Disease
ORPHA:3135
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
ORPHA:85275
Cervical Vertebral Dysplasia
OMIM:118005
Nanophthalmos 1
OMIM:600165
Microphthalmia, Isolated 7
OMIM:613704
Corneal Dystrophy, Fuchs Endothelial, 3
OMIM:613267
Nanophthalmos 2
OMIM:609549
Microphthalmia, Isolated 1
OMIM:251600
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
ORPHA:2802
Lipedema
OMIM:614103
Immunodeficiency, Common Variable, 1
OMIM:607594
Immunodeficiency 24
OMIM:615897
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
OMIM:300861
Caspase 8 Deficiency
OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
OMIM:618987
Microphthalmia, Isolated, With Coloboma 10
OMIM:616428
Severe Combined Immunodeficiency, X-Linked
OMIM:300400
Angioedema, Hereditary, 6
OMIM:619363
Ataxia-Pancytopenia Syndrome
ORPHA:2585
Spondylocostal Dysostosis 6, Autosomal Recessive
OMIM:616566
Combined Oxidative Phosphorylation Deficiency 14
OMIM:614946
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
OMIM:618944
Cerebrooculofacioskeletal Syndrome 3
OMIM:616570
Microphthalmia, Isolated, With Coloboma 5
OMIM:611638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
OMIM:102700
Macrosomia With Microphthalmia, Lethal
OMIM:248110
Immunodeficiency, Common Variable, 3
OMIM:613493
Microphthalmia, Isolated, With Coloboma 7
OMIM:614497
Immunodeficiency 60
OMIM:618394
Spinocerebellar Ataxia 17
OMIM:607136
Immunodeficiency 14B, Autosomal Recessive
OMIM:619281
Nanophthalmos 4
OMIM:615972
Neurodegeneration, Infantile-Onset, Biotin-Responsive
OMIM:618973
Congenital Neuronal Ceroid Lipofuscinosis
ORPHA:168486
Immunodeficiency, Common Variable, 8, With Autoimmunity
OMIM:614700
B-Cell Expansion With Nfkb And T-Cell Anergy
OMIM:616452
Lymphoid System Deterioration, Progressive
OMIM:247630
Pontocerebellar Hypoplasia, Type 4
OMIM:225753
Persistent Polyclonal B-Cell Lymphocytosis
OMIM:606445
Congenital Amegakaryocytic Thrombocytopenia
ORPHA:3319
Autoimmune Lymphoproliferative Syndrome, Type V
OMIM:616100
Fryns Microphthalmia Syndrome
OMIM:600776
Klippel-Feil Syndrome 3, Autosomal Dominant
OMIM:613702
Microphthalmia, Isolated 3
OMIM:611038
Diamond-Blackfan Anemia 19
OMIM:618312
Spinocerebellar Ataxia, Autosomal Recessive 27
OMIM:618369
Microphthalmia, Isolated, With Cataract 1
OMIM:156850
Immunodeficiency 14A, Autosomal Dominant
OMIM:615513
Microphthalmia, Isolated, With Coloboma 6
OMIM:613703
Hemimegalencephaly
ORPHA:99802
Mannosidosis, Alpha B, Lysosomal
OMIM:248500
Vertebral Hypoplasia With Lumbar Kyphosis
OMIM:192900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
ORPHA:331206
Microcephalic Primordial Dwarfism, Toriello Type
ORPHA:2643
Immunodeficiency 70
OMIM:618969
Spastic Paraplegia 50, Autosomal Recessive
OMIM:612936
Transcobalamin Deficiency
ORPHA:859
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
OMIM:618276
Spinocerebellar Ataxia, Autosomal Recessive 2
OMIM:213200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
ORPHA:508533
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
OMIM:610798
Immunodeficiency 48
OMIM:269840
Premature Ovarian Failure 12
OMIM:616947
Huntington Disease
OMIM:143100
Combined Immunodeficiency With Faciooculoskeletal Anomalies
ORPHA:221139
Leukoencephalopathy, Progressive, With Ovarian Failure
OMIM:615889
Pyruvate Dehydrogenase E1-Alpha Deficiency
ORPHA:79243
Spinocerebellar Ataxia 43
OMIM:617018
Chudley-Mccullough Syndrome
OMIM:604213
Immunodeficiency 64
OMIM:618534
Developmental And Epileptic Encephalopathy 14
OMIM:614959
Immunodeficiency 52
OMIM:617514
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
OMIM:616335
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
OMIM:608971
Microphthalmia, Isolated, With Coloboma 4
OMIM:251505
Spastic Ataxia-Corneal Dystrophy Syndrome
ORPHA:2572
Transient Erythroblastopenia Of Childhood
OMIM:227050
Gombo Syndrome
OMIM:233270
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
ORPHA:2590
Cerebrooculofacioskeletal Syndrome 1
OMIM:214150
Selective Igm Deficiency
ORPHA:331235
Huntington Disease-Like 1
ORPHA:157941
Microcephalic Primordial Dwarfism, Toriello Type
OMIM:251190
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
OMIM:617862
Pontocerebellar Hypoplasia, Type 15
OMIM:619302
Leukoencephalopathy with metaphyseal chondrodysplasia
OMIM:300660
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
ORPHA:3240
Autoimmune Lymphoproliferative Syndrome
ORPHA:3261
Cernunnos-Xlf Deficiency
ORPHA:169079
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
ORPHA:521406
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
OMIM:611926
Ataxia-Pancytopenia Syndrome
OMIM:159550
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
ORPHA:85317
Immunodeficiency, Common Variable, 14
OMIM:617765
Sporadic Creutzfeldt-Jakob Disease
ORPHA:204
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
OMIM:610185
Immunodeficiency 50
OMIM:300988
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
OMIM:213000
Cortical Dysplasia, Complex, With Other Brain Malformations 6
OMIM:615771
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
ORPHA:457240
Lymphatic Malformation 11
OMIM:619401
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
OMIM:300853
Immunoerythromyeloid Hypoplasia
OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency
OMIM:235550
Pontocerebellar Hypoplasia, Type 14
OMIM:619301
Dextrocardia With Unusual Facies And Microphthalmia
OMIM:221950
Leukoencephalopathy, Brain Calcifications, And Cysts
OMIM:614561
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
ORPHA:35078
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
OMIM:251700
Acrodysplasia Scoliosis
ORPHA:2956
Hypermanganesemia With Dystonia 2
OMIM:617013
Agammaglobulinemia 1, Autosomal Recessive
OMIM:601495
X-Linked Lymphoproliferative Disease
ORPHA:2442
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
OMIM:615362
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
OMIM:247800
Combined Immunodeficiency, X-Linked
OMIM:312863
Gaucher Disease, Atypical, Due To Saposin C Deficiency
OMIM:610539
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
ORPHA:330050
Immunodeficiency 27A
OMIM:209950
Immunodeficiency 78 With Autoimmunity And Developmental Delay
OMIM:619220
Roifman Syndrome
ORPHA:353298
Lopes-Maciel-Rodan Syndrome
OMIM:617435
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
ORPHA:277
Microphthalmia, Syndromic 12
OMIM:615524
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
OMIM:617193
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
OMIM:221770
Aspergillosis
ORPHA:1163
Immunodeficiency, Common Variable, 10
OMIM:615577
Spinocerebellar Ataxia, Autosomal Recessive 21
OMIM:616719
Autoimmune Lymphoproliferative Syndrome, Type Iii
OMIM:615559
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
ORPHA:1192
Immunodeficiency, Common Variable, 4
OMIM:613494
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
OMIM:270500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
OMIM:614498
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
OMIM:613101
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
OMIM:601457
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
OMIM:618986
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
OMIM:159950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
ORPHA:70593
Migraine, Familial Hemiplegic, 1
OMIM:141500
Microphthalmia, Isolated, With Coloboma 3
OMIM:610092
Tularemia
ORPHA:3392
Pontocerebellar Hypoplasia, Type 2A
OMIM:277470
Leukodystrophy, Hypomyelinating, 11
OMIM:616494
Spinocerebellar Ataxia Type 38
ORPHA:423296
Episodic Ataxia, Type 1
OMIM:160120
Intellectual Developmental Disorder, X-Linked 12
OMIM:300957
Congenital Varicella Syndrome
ORPHA:291
Cortical Dysplasia, Complex, With Other Brain Malformations 7
OMIM:610031
Neuroectodermal Melanolysosomal Disease
ORPHA:33445
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
OMIM:617744
Purine Nucleoside Phosphorylase Deficiency
OMIM:613179
Rosaï-Dorfman Disease
ORPHA:158014
L-2-Hydroxyglutaric Aciduria
OMIM:236792
Neurodegeneration With Brain Iron Accumulation 2A
OMIM:256600
Spinocerebellar Ataxia Type 31
ORPHA:217012
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
OMIM:242870
Lissencephaly Syndrome, Norman-Roberts Type
ORPHA:89844
Wiskott-Aldrich Syndrome, Autosomal Dominant
OMIM:600903
Frontotemporal Dementia With Motor Neuron Disease
ORPHA:275872
Spinocerebellar Ataxia 37
OMIM:615945
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
OMIM:200900
Agammaglobulinemia 3, Autosomal Recessive
OMIM:613501
Immunodeficiency 51
OMIM:613953
Lymphoproliferative Syndrome, X-Linked, 1
OMIM:308240
Spinocerebellar Ataxia, X-Linked 3
OMIM:301790
Immunodeficiency 11
OMIM:615206
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
OMIM:221820
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
OMIM:618321
Ataxia-Telangiectasia
ORPHA:100
Autosomal Recessive Spastic Paraplegia Type 67
ORPHA:401820
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
OMIM:618090
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
OMIM:617669
Adult Neuronal Ceroid Lipofuscinosis
ORPHA:79262
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
OMIM:617241
Autoimmune Lymphoproliferative Syndrome
OMIM:601859
Leigh Syndrome
ORPHA:506
Combined Oxidative Phosphorylation Deficiency 45
OMIM:618951
Spinocerebellar Ataxia Type 37
ORPHA:363710
Transcobalamin Ii Deficiency
OMIM:275350
Riddle Syndrome
ORPHA:420741
Microphthalmia, Isolated 4
OMIM:613094
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
ORPHA:1436
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
OMIM:617780
Lissencephaly 3
OMIM:611603
Cataract 11, Multiple Types
OMIM:610623
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
ORPHA:169160
Jaberi-Elahi Syndrome
OMIM:617988
Lymphoproliferative Syndrome, X-Linked, 2
OMIM:300635
Combined Cellular And Humoral Immune Defects With Granulomas
OMIM:233650
Agammaglobulinemia 7, Autosomal Recessive
OMIM:615214
Combined Immunodeficiency Due To Dock8 Deficiency
ORPHA:217390
Machado-Joseph Disease
OMIM:109150
Nanophthalmos
ORPHA:35612
Primary Non-Essential Cutis Verticis Gyrata
ORPHA:357225
Pontocerebellar Hypoplasia Type 2
ORPHA:2524
Spinocerebellar Ataxia 23
OMIM:610245
Apolipoprotein A-I Deficiency
ORPHA:425
Spastic Paraplegia 45, Autosomal Recessive
OMIM:613162
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
OMIM:618806
Immunodeficiency 83, Susceptibility To Viral Infections
OMIM:613002
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
OMIM:105550
Epilepsy, Progressive Myoclonic 7
OMIM:616187
X-Linked Intellectual Disability, Hedera Type
ORPHA:93952
Meckel Syndrome, Type 8
OMIM:613885
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
ORPHA:79124
Immunodeficiency With Hyper-Igm, Type 3
OMIM:606843
Combined Oxidative Phosphorylation Deficiency 24
OMIM:616239
Atypical Rett Syndrome
ORPHA:3095
Immunodeficiency 47
OMIM:300972
Autoimmune Lymphoproliferative Syndrome, Type Iia
OMIM:603909
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
OMIM:611105
Immunodeficiency 23
OMIM:615816
Immunodeficiency 72 With Autoinflammation
OMIM:618982
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
OMIM:602613
Spinocerebellar Ataxia Type 15/16
ORPHA:98769
Microcephaly 10, Primary, Autosomal Recessive
OMIM:615095
Tay-Sachs Disease
ORPHA:845
Congenital Disorder Of Glycosylation, Type Iic
OMIM:266265
Spinocerebellar Ataxia Type 12
ORPHA:98762
Immunodeficiency, Common Variable, 2
OMIM:240500
Isolated Agammaglobulinemia
ORPHA:229717
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
OMIM:604484
Lymphoproliferative Syndrome 3
OMIM:618261
Lissencephaly Due To Lis1 Mutation
ORPHA:95232
Rigid Spine Syndrome
ORPHA:97244
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
ORPHA:500166
Immunodeficiency 57 With Autoinflammation
OMIM:618108
Immunodeficiency By Defective Expression Of Mhc Class Ii
ORPHA:572
Infantile Neuronal Ceroid Lipofuscinosis
ORPHA:79263
Bone Marrow Failure Syndrome 4
OMIM:618116
Wiskott-Aldrich Syndrome
OMIM:301000
Aicardi-Goutieres Syndrome 6
OMIM:615010
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
OMIM:616505
Osteopetrosis, Autosomal Recessive 7
OMIM:612301
Infantile Osteopetrosis With Neuroaxonal Dysplasia
ORPHA:85179
Lymphoma, Hodgkin, Classic
OMIM:236000
Spinocerebellar Ataxia, Autosomal Recessive 16
OMIM:615768
Agammaglobulinemia 4, Autosomal Recessive
OMIM:613502
Ghosal Hematodiaphyseal Dysplasia
ORPHA:1802
Bone Marrow Failure Syndrome 5
OMIM:618165
Bloom Syndrome
OMIM:210900
Gaucher Disease, Type Ii
OMIM:230900
Immunodeficiency, Common Variable, 7
OMIM:614699
Reticular Dysgenesis
ORPHA:33355
Spondyloenchondrodysplasia With Immune Dysregulation
OMIM:607944
Ring Chromosome 21 Syndrome
ORPHA:1445
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
OMIM:609528
Cerebrotendinous Xanthomatosis
ORPHA:909
Spinocerebellar Ataxia Type 20
ORPHA:101110
Immunodeficiency 76
OMIM:619164
Immunodeficiency With Hyper-Igm, Type 1
OMIM:308230
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
OMIM:616900
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
ORPHA:1574
Cln5 Disease
ORPHA:228360
Leigh Syndrome
OMIM:256000
Schnitzler Syndrome
ORPHA:37748
Leukoencephalopathy With Vanishing White Matter
OMIM:603896
Neutropenia, Severe Congenital, 5, Autosomal Recessive
OMIM:615285
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
OMIM:616911
Foxg1 Syndrome
ORPHA:561854
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
OMIM:254900
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
OMIM:615119
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
OMIM:153600
Cowden Syndrome 1
OMIM:158350
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
ORPHA:404454
Agammaglobulinemia 8, Autosomal Dominant
OMIM:616941
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
OMIM:606367
Encephalopathy, Progressive, With Or Without Lipodystrophy
OMIM:615924
Pelizaeus-Merzbacher Disease, Connatal Form
ORPHA:280210
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
OMIM:604218
Immunodeficiency 75
OMIM:619126
Spinocerebellar Ataxia, Autosomal Recessive 4
OMIM:607317
Rasmussen Subacute Encephalitis
ORPHA:1929
Macrosomia-Microphthalmia-Cleft Palate Syndrome
ORPHA:2432
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
OMIM:610090
Juvenile Neuronal Ceroid Lipofuscinosis
ORPHA:79264
4H Leukodystrophy
ORPHA:289494
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
OMIM:300423
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
OMIM:169500
Oculocerebrocutaneous Syndrome
OMIM:164180
Immunodeficiency, Common Variable, 12, With Autoimmunity
OMIM:616576
Mevalonic Aciduria
OMIM:610377
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
OMIM:618387
Polymicrogyria Due To Tubb2B Mutation
ORPHA:300573
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
OMIM:617425
Spastic Paraplegia 78, Autosomal Recessive
OMIM:617225
Immunodeficiency 37
OMIM:616098
Immunodeficiency, Common Variable, 11
OMIM:615767
Ataxia-Telangiectasia
OMIM:208900
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
OMIM:618170
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
OMIM:250620
Immunodeficiency 25
OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency
ORPHA:911
3-Methylglutaconic Aciduria, Type Viii
OMIM:617248
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
ORPHA:83617
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
OMIM:614069
Diabetes Insipidus, Neurohypophyseal
OMIM:125700
Manitoba Oculotrichoanal Syndrome
OMIM:248450
Lymphoproliferative Syndrome 1
OMIM:613011
Spinocerebellar Ataxia, Autosomal Recessive 13
OMIM:614831
Glycosylphosphatidylinositol Biosynthesis Defect 15
OMIM:617810
Congenital Primary Aphakia
ORPHA:83461
Bloom Syndrome
ORPHA:125
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
ORPHA:137898
Omenn Syndrome
OMIM:603554
Mucopolysaccharidosis-Plus Syndrome
OMIM:617303
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
ORPHA:139485
Griscelli Syndrome
ORPHA:381
Whim Syndrome 1
OMIM:193670
Immunodeficiency 61
OMIM:300310
Pgm3-Cdg
ORPHA:443811
Neurodegeneration With Brain Iron Accumulation 5
OMIM:300894
Epilepsy, Progressive Myoclonic, 6
OMIM:614018
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
ORPHA:453521
Lissencephaly, X-Linked, 2
OMIM:300215
Lymphoproliferative Syndrome 2
OMIM:615122
Spinocerebellar Ataxia Type 14
ORPHA:98763
Dystonia, Dopa-Responsive
OMIM:128230
Mu-Heavy Chain Disease
ORPHA:100024
Foveal Hypoplasia 2
OMIM:609218
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
OMIM:619375
Sialidosis Type 2
ORPHA:87876
Fanconi Anemia, Complementation Group J
OMIM:609054
Charcot-Marie-Tooth Disease, Axonal, Type 2X
OMIM:616668
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
OMIM:203700
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
OMIM:618060
Familial Hemophagocytic Lymphohistiocytosis
ORPHA:540
Mucolipidosis Iv
OMIM:252650
Immunodeficiency 46
OMIM:616740
Alpha-Heavy Chain Disease
ORPHA:100025
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
ORPHA:369837
Mirage Syndrome
OMIM:617053
Thymoma
ORPHA:99867
Lymphangiectasia, Intestinal
OMIM:152800
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
OMIM:618523
Immunodeficiency 13
OMIM:615518
Spinocerebellar Ataxia 12
OMIM:604326
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
OMIM:309620
Gm1 Gangliosidosis
ORPHA:354
Spinocerebellar Ataxia 18
OMIM:607458
Alpha-Mannosidosis, Adult Form
ORPHA:309288
Japanese Encephalitis
ORPHA:79139
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
ORPHA:255182
Microphthalmia, Isolated 6
OMIM:613517
Whim Syndrome
ORPHA:51636
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
OMIM:615157
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
OMIM:300354
Autoimmune Disease, Multisystem, Infantile-Onset, 2
OMIM:617006
Spondyloenchondrodysplasia
ORPHA:1855
Congenital Disorder Of Glycosylation, Type Iig
OMIM:611209
Coenzyme Q10 Deficiency, Primary, 4
OMIM:612016
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
OMIM:600802
Immunoglobulin A Deficiency 2
OMIM:609529
Okur-Chung Neurodevelopmental Syndrome
OMIM:617062
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
OMIM:220111
Neurodegeneration With Brain Iron Accumulation 8
OMIM:617917
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
OMIM:619092
Behr Syndrome
OMIM:210000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
ORPHA:46532
Pulmonary Edema Of Mountaineers, Susceptibility To
OMIM:178400
Agammaglobulinemia 2, Autosomal Recessive
OMIM:613500
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
OMIM:618587
Immunodeficiency 32B
OMIM:226990
X-Linked Charcot-Marie-Tooth Disease Type 3
ORPHA:101077
Hemophagocytic Lymphohistiocytosis, Familial, 3
OMIM:608898
Coenzyme Q10 Deficiency, Primary, 9
OMIM:619028
Dyskinesia, Limb And Orofacial, Infantile-Onset
OMIM:616921
Hemophagocytic Lymphohistiocytosis, Familial, 4
OMIM:603552
Immunodeficiency With Hyper-Igm, Type 5
OMIM:608106
Mitochondrial Myopathy And Sideroblastic Anemia
ORPHA:2598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
OMIM:208920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
OMIM:616171
Trisomy 13
ORPHA:3378
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
OMIM:205950
Trimethylaminuria
OMIM:602079
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
ORPHA:431361
Agammaglobulinemia 5, Autosomal Dominant
OMIM:613506
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
OMIM:614833
Anemia, Hypochromic Microcytic, With Iron Overload 1
OMIM:206100
Immunoglobulin M, Level Of
OMIM:308250
Mental Retardation, Autosomal Dominant 55, With Seizures
OMIM:617831
Hemiparkinsonism-Hemiatrophy Syndrome
ORPHA:306669
Common Variable Immunodeficiency
ORPHA:1572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
OMIM:242860
Lichtenstein-Knorr Syndrome
OMIM:616291
Primary Sjögren Syndrome
ORPHA:289390
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
ORPHA:231393
Niemann-Pick Disease Type C