Gene: Smurf2 MGI:1913563

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Gene Summary

Name:
SMAD specific E3 ubiquitin protein ligase 2
Synonyms:
2810411E22Rik

IMPC Data Collections

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 Smurf2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal maxilla morphology Smurf2tm1b(EUCOMM)Wtsi HET   Early adult 9.97×10-05

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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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 50% (1 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 50% (1 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 100% (2 of 2)

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)
bone 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)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
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%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
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)
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)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 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)
brain 1.18% (6 of 507)
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)
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)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Smurf2 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 Smurf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Li-Fraumeni Syndrome 2
OMIM:609265
Reticulum Cell Sarcoma
OMIM:267730
Myofibromatosis, Infantile, 1
OMIM:228550
Muir-Torre Syndrome
OMIM:158320
Ewing Sarcoma
OMIM:612219
Cerebral Sarcoma
OMIM:117600
Nthl1-Related Attenuated Familial Adenomatous Polyposis
ORPHA:454840
Melanoma-Pancreatic Cancer Syndrome
OMIM:606719
Apc-Related Attenuated Familial Adenomatous Polyposis
ORPHA:247806
Hemifacial Hyperplasia
OMIM:133900
Mismatch Repair Cancer Syndrome 1
OMIM:276300
Hereditary Mixed Polyposis Syndrome
ORPHA:157794
Desmoid Disease, Hereditary
OMIM:135290
Multiple Fibroadenomas Of The Breast
OMIM:615554
Sarcoma, Synovial
OMIM:300813
Alveolar Soft Part Sarcoma
OMIM:606243
Familial Adenomatous Polyposis 1
OMIM:175100
Mast Cell Sarcoma
ORPHA:66661
Familial Adenomatous Polyposis
ORPHA:733
Chondrosarcoma
OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
OMIM:612237
Rhabdoid Tumor Predisposition Syndrome 2
OMIM:613325
Undifferentiated Pleomorphic Sarcoma
ORPHA:2023
Colorectal Cancer, Susceptibility To, 12
OMIM:615083
Li-Fraumeni Syndrome
OMIM:151623
Nut Midline Carcinoma
ORPHA:443167
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
OMIM:600257
Hydrocephalus, Congenital, 1
OMIM:236600
Erythroleukemia, Familial, Susceptibility To
OMIM:133180
Paraneoplastic Pemphigus
ORPHA:63455
Juvenile Polyposis Syndrome
OMIM:174900
Attenuated Familial Adenomatous Polyposis
ORPHA:220460
Acquired Ichthyosis
ORPHA:454
Hydrocephalus With Cerebellar Agenesis
OMIM:307010
Dermatofibrosarcoma Protuberans
ORPHA:31112
Mantle Cell Lymphoma
ORPHA:52416
Ollier Disease
ORPHA:296
Polymerase Proofreading-Related Adenomatous Polyposis
ORPHA:447877
Megalencephaly, Autosomal Dominant
OMIM:155350
Maffucci Syndrome
ORPHA:163634
Lichen Sclerosus Et Atrophicus
OMIM:151590
Sacral Agenesis With Vertebral Anomalies
OMIM:615709
Desmoplastic Small Round Cell Tumor
ORPHA:83469
Enchondromatosis, Multiple, Ollier Type
OMIM:166000
Mutyh-Related Attenuated Familial Adenomatous Polyposis
ORPHA:247798
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
OMIM:615938
Craniofacial Conodysplasia
ORPHA:85168
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
OMIM:236660
Keratosis, Familial Actinic
OMIM:148390
Immunodeficiency 16
OMIM:615593
Progressive Osseous Heteroplasia
ORPHA:2762
Neuroendocrine Neoplasm Of Appendix
ORPHA:100079
Alexander Disease
OMIM:203450
Gastrointestinal Stromal Tumor
ORPHA:44890
Multiple Enchondromatosis, Maffucci Type
OMIM:614569
Hypereosinophilic Syndrome, Idiopathic
OMIM:607685
Fetal Cytomegalovirus Syndrome
ORPHA:294
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
OMIM:618709
Rhabdoid Tumor
ORPHA:69077
Infantile Myofibromatosis
ORPHA:2591
Papilloma Of Choroid Plexus
ORPHA:2807
Neural Tube Defects, Susceptibility To
OMIM:182940
Liposarcoma
ORPHA:69078
Large Congenital Melanocytic Nevus
ORPHA:626
Hydrocephalus, Autosomal Dominant
OMIM:123155
Tyrosinemia Type 1
ORPHA:882
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
ORPHA:2274
B4Galt1-Cdg
ORPHA:79332
Nodular Lymphocyte Predominant Hodgkin Lymphoma
ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder
OMIM:614470
Gardner Syndrome
ORPHA:79665
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
OMIM:615937
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
OMIM:603641
Pineocytoma
ORPHA:251912
Alpha-Thalassemia-Myelodysplastic Syndrome
ORPHA:231401
Hypomandibular Faciocranial Dysostosis
OMIM:241310
Craniofacial-Deafness-Hand Syndrome
OMIM:122880
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
OMIM:611808
Spondylospinal Thoracic Dysostosis
OMIM:601809
Beemer Lethal Malformation Syndrome
OMIM:209970
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
ORPHA:1538
Li-Fraumeni Syndrome
ORPHA:524
Colorectal Cancer, Susceptibility To, 10
OMIM:612591
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
ORPHA:2972
Hydrocephalus, Congenital, 3, With Brain Anomalies
OMIM:617967
Pseudohermaphroditism, Female, With Skeletal Anomalies
OMIM:264270
Progressive Familial Intrahepatic Cholestasis
ORPHA:172
Yellow Nail Syndrome
ORPHA:662
Gray Platelet Syndrome
ORPHA:721
Masa Syndrome
OMIM:303350
Exostoses, Multiple, Type Ii
OMIM:133701
Exostoses, Multiple, Type I
OMIM:133700
Alpha-Heavy Chain Disease
ORPHA:100025
Hodgkin Lymphoma
ORPHA:98293
Desmoid Tumor
ORPHA:873
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
OMIM:166990
Alpha-Thalassemia
ORPHA:846
Immunodeficiency 76
OMIM:619164
Apolipoprotein A-I Deficiency
ORPHA:425
Band Heterotopia
OMIM:600348
Chudley-Mccullough Syndrome
OMIM:604213
Atypical Teratoid Rhabdoid Tumor
ORPHA:99966
Glycoprotein Storage Disease
OMIM:232900
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
OMIM:273050
Fanconi Anemia, Complementation Group R
OMIM:617244
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
ORPHA:46532
Dandy-Walker Syndrome
OMIM:220200
Mastocytosis
ORPHA:98292
Adenocarcinoma Of The Anal Canal
ORPHA:424016
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
OMIM:300853
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
OMIM:618495
Ataxia-Pancytopenia Syndrome
ORPHA:2585
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
OMIM:608432
Chronic Myeloid Leukemia
ORPHA:521
Ovarian Fibrothecoma
ORPHA:314478
Acquired Idiopathic Sideroblastic Anemia
ORPHA:75564
Hemoglobin H Disease
OMIM:613978
Follicular Lymphoma
ORPHA:545
Congenital Bile Acid Synthesis Defect Type 2
ORPHA:79303
Acromesomelic Dysplasia, Grebe Type
ORPHA:2098
Edinburgh Malformation Syndrome
OMIM:129850
Retinoblastoma
OMIM:180200
Squamous Cell Carcinoma, Head And Neck
OMIM:275355
Achondroplasia
OMIM:100800
Fried Syndrome
ORPHA:85335
Congenital Bile Acid Synthesis Defect Type 3
ORPHA:79302
Hyperlipoproteinemia, Type Id
OMIM:615947
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
OMIM:206400
Myelofibrosis
OMIM:254450
Kleeblattschaedel
OMIM:148800
Metatropic Dysplasia
ORPHA:2635
Developmental And Epileptic Encephalopathy 36
OMIM:300884
Autosomal Recessive Distal Osteolysis Syndrome
ORPHA:2776
Immunodeficiency 48
OMIM:269840
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
ORPHA:1008
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
OMIM:608971
Lymphoproliferative Syndrome 2
OMIM:615122
Classic Mycosis Fungoides
ORPHA:2584
Biemond Syndrome Ii
OMIM:210350
Lung Cancer
OMIM:211980
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
OMIM:183802
Cheilitis Glandularis
OMIM:118330
Werner Syndrome
ORPHA:902
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
OMIM:619375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
OMIM:614830
Pettigrew Syndrome
OMIM:304340
Hypertriglyceridemia, Transient Infantile
OMIM:614480
Immunodeficiency 36
OMIM:616005
Proteasome-Associated Autoinflammatory Syndrome 5
OMIM:619175
Primary Sclerosing Cholangitis
ORPHA:171
Immunodeficiency 78 With Autoimmunity And Developmental Delay
OMIM:619220
Immunodeficiency, Common Variable, 2
OMIM:240500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
OMIM:613154
Cronkhite-Canada Syndrome
ORPHA:2930
Sea-Blue Histiocyte Disease
OMIM:269600
Congenital Bile Acid Synthesis Defect Type 1
ORPHA:79301
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
ORPHA:444463
Autoimmune Lymphoproliferative Syndrome, Type Iii
OMIM:615559
Cleft Velum
ORPHA:99772
Immunodeficiency 64
OMIM:618534
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
ORPHA:2703
Essential Thrombocythemia
ORPHA:3318
Developmental And Epileptic Encephalopathy 49
OMIM:617281
Papilloma Of Choroid Plexus
OMIM:260500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
OMIM:183350
Schnitzler Syndrome
ORPHA:37748
Intellectual Developmental Disorder, X-Linked, Syndromic 14
OMIM:300676
Dental Anomalies And Short Stature
OMIM:601216
Gastrointestinal Stromal Tumor
OMIM:606764
Holoprosencephaly 5
OMIM:609637
Tuberous Sclerosis 2
OMIM:613254
Hyperbilirubinemia, Shunt, Primary
OMIM:237800
Classic Hodgkin Lymphoma
ORPHA:391
Vacterl Association With Hydrocephalus
OMIM:276950
Persistent Polyclonal B-Cell Lymphocytosis
OMIM:606445
Split-Hand/Foot Malformation 3
OMIM:246560
X-Linked Intellectual Disability, Sutherland-Haan Type
ORPHA:93950
Short-Rib Thoracic Dysplasia 18 With Polydactyly
OMIM:617866
Osteolysis Syndrome, Recessive
OMIM:259610
Cholestasis-Lymphedema Syndrome
ORPHA:1414
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
OMIM:118830
Terminal Osseous Dysplasia
OMIM:300244
Encephalopathy Due To Prosaposin Deficiency
ORPHA:139406
Deafness-Lymphedema-Leukemia Syndrome
ORPHA:3226
Neutropenia, Severe Congenital, 5, Autosomal Recessive
OMIM:615285
Omphalocele-Cleft Palate Syndrome, Lethal
OMIM:258320
Pleuropulmonary Blastoma
OMIM:601200
Intellectual Developmental Disorder, X-Linked, Syndromic 32
OMIM:300886
Lymphoproliferative Syndrome, X-Linked, 1
OMIM:308240
Acute Panmyelosis With Myelofibrosis
ORPHA:86843
Methylmalonic Acidemia With Homocystinuria
ORPHA:26
Hydrocephalus, Congenital Communicating, 1
OMIM:618667
Acalvaria
ORPHA:945
Gist-Plus Syndrome
OMIM:175510
Immunodeficiency 47
OMIM:300972
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
OMIM:618541
Milroy Disease
ORPHA:79452
X-Linked Intellectual Disability, Porteous Type
ORPHA:93945
Retinoblastoma
ORPHA:790
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
ORPHA:457059
Hydrolethalus Syndrome 2
OMIM:614120
Monosomy 22
ORPHA:96123
Craniofacial Dyssynostosis
ORPHA:1516
Autoimmune Hemolytic Anemia, Warm Type
ORPHA:90033
Cholestasis-Lymphedema Syndrome
OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 2
OMIM:601847
Multicentric Carpotarsal Osteolysis Syndrome
OMIM:166300
Autoinflammation With Episodic Fever And Lymphadenopathy
OMIM:618852
Proteus Syndrome
OMIM:176920
Lymphoproliferative Syndrome 1
OMIM:613011
Gómez-López-Hernández Syndrome
ORPHA:1532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
ORPHA:231393
Immunodeficiency 54
OMIM:609981
Cole-Carpenter Syndrome 1
OMIM:112240
Congenital Hydrocephalus
ORPHA:2185
1Q21.1 Microduplication Syndrome
ORPHA:250994
Systemic Mastocytosis With Associated Hematologic Neoplasm
ORPHA:98849
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
ORPHA:2181
Anemia, Congenital Dyserythropoietic, Type Iv
OMIM:613673
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
OMIM:156510
Combined Saposin Deficiency
OMIM:611721
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
ORPHA:324416
Hemophagocytic Lymphohistiocytosis, Familial, 4
OMIM:603552
Gamma-Heavy Chain Disease
ORPHA:100026
Galactose Epimerase Deficiency
ORPHA:79238
Red Cell Phospholipid Defect With Hemolysis
OMIM:179700
Anemia, Hypochromic Microcytic, With Iron Overload 2
OMIM:615234
Primary Myelofibrosis
ORPHA:824
Carney Triad
ORPHA:139411
Galactosemia Iii
OMIM:230350
Sandhoff Disease
ORPHA:796
Meige Disease
ORPHA:90186
Portal Hypertension, Noncirrhotic, 1
OMIM:617068
Frontal Encephalocele
ORPHA:1931
Cleft Lip/Palate
ORPHA:199306
Paragangliomas 4
OMIM:115310
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
OMIM:112250
Multiple Endocrine Neoplasia, Type Iv
OMIM:610755
Splenoportal Vascular Anomalies
OMIM:271500
Hydrocephalus-Obesity-Hypogonadism Syndrome
ORPHA:2183
Neonatal Severe Primary Hyperparathyroidism
ORPHA:417
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
OMIM:613101
Gorlin Syndrome
ORPHA:377
Sézary Syndrome
ORPHA:3162
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
ORPHA:397973
Papillary Tumor Of The Pineal Region
ORPHA:251915
Immunodeficiency 69
OMIM:618963
6P22 Microdeletion Syndrome
ORPHA:251046
Niemann-Pick Disease, Type B
OMIM:607616
Maxillonasal Dysplasia
ORPHA:1248
Trimethylaminuria
OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
ORPHA:228312
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
ORPHA:2180
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
OMIM:600991
Hemochromatosis, Type 2B
OMIM:613313
Carney-Stratakis Syndrome
ORPHA:97286
Turcot Syndrome With Polyposis
ORPHA:99818
Mu-Heavy Chain Disease
ORPHA:100024
Spinocerebellar Ataxia, Autosomal Recessive 21
OMIM:616719
Congenital Disorder Of Glycosylation, Type Iio
OMIM:616828
Cholesteryl Ester Storage Disease
ORPHA:75234
Thanatophoric Dysplasia
ORPHA:2655
Autoimmune Hemolytic Anemia
ORPHA:98375
Blackfan-Diamond Anemia
ORPHA:124
Thanatophoric Dysplasia Type 2
ORPHA:93274
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
OMIM:616860
Hemoglobin C-Beta-Thalassemia Syndrome
ORPHA:231242
Multiple Endocrine Neoplasia Type 4
ORPHA:276152
Temple Syndrome
OMIM:616222
Anemia, Congenital Dyserythropoietic, Type Ib
OMIM:615631
Spastic Paraplegia 16, X-Linked
OMIM:300266
Gaucher Disease Type 2
ORPHA:77260
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
ORPHA:352682
Crouzon Syndrome-Acanthosis Nigricans Syndrome
ORPHA:93262
Lymphoproliferative Syndrome, X-Linked, 2
OMIM:300635
Neurofibromatosis Type 1
ORPHA:636
Biemond Syndrome Type 2
ORPHA:141333
20P12.3 Microdeletion Syndrome
ORPHA:261295
Aicardi-Goutieres Syndrome 4
OMIM:610333
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
OMIM:618577
Melanosis, Neurocutaneous
OMIM:249400
Diencephalic Syndrome
ORPHA:1672
Anemia, Congenital Dyserythropoietic, Type Ii
OMIM:224100
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
OMIM:300864
Cowden Syndrome
ORPHA:201
Lysosomal Acid Lipase Deficiency
OMIM:278000
Corpus Callosum, Partial Agenesis Of, X-Linked
OMIM:304100
Bile Acid Synthesis Defect, Congenital, 5
OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 3
OMIM:602347
Rhabdomyosarcoma 2
OMIM:268220
Vitamin K Antagonist Embryofetopathy
ORPHA:1914
Pfapa Syndrome
ORPHA:42642
Andersen Cardiodysrhythmic Periodic Paralysis
OMIM:170390
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
OMIM:618737
Budd-Chiari Syndrome
ORPHA:131
Common Variable Immunodeficiency
ORPHA:1572
Vacterl Association, X-Linked, With Or Without Hydrocephalus
OMIM:314390
Coproporphyria, Hereditary
OMIM:121300
Ghosal Hematodiaphyseal Dysplasia
ORPHA:1802
Craniotelencephalic Dysplasia
ORPHA:1528
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
OMIM:225790
Mend Syndrome
OMIM:300960
Chromosome 17P13.1 Deletion Syndrome
OMIM:613776
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
ORPHA:1018
Palmoplantar Carcinoma, Multiple Self-Healing
OMIM:615225
Congenital Disorder Of Glycosylation, Type Ik
OMIM:608540
Pontocerebellar Hypoplasia, Type 15
OMIM:619302
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
OMIM:617542
Mandibulofacial Dysostosis With Alopecia
OMIM:616367
Anemia, Congenital Dyserythropoietic, Type Ia
OMIM:224120
Immunodeficiency 52
OMIM:617514
Crouzon Syndrome With Acanthosis Nigricans
OMIM:612247
Ornithine Transcarbamylase Deficiency
ORPHA:664
Hemochromatosis, Type 1
OMIM:235200
Distal 7Q11.23 Microduplication Syndrome
ORPHA:261102
Cholestasis, Progressive Familial Intrahepatic, 1
OMIM:211600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
ORPHA:766
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
ORPHA:99947
Mental Retardation, Buenos Aires Type
OMIM:249630
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
ORPHA:2182
Craniofacial-Deafness-Hand Syndrome
ORPHA:1529
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
OMIM:618476
Glycosylphosphatidylinositol Biosynthesis Defect 1
OMIM:610293
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
ORPHA:2975
Jackson-Weiss Syndrome
ORPHA:1540
Amyloidosis, Familial Visceral
OMIM:105200
Bile Acid Synthesis Defect, Congenital, 3
OMIM:613812
X-Linked Sideroblastic Anemia
ORPHA:75563
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
ORPHA:85279
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
OMIM:602501
Radial Aplasia, X-Linked
OMIM:312190
Craniosynostosis And Dental Anomalies
OMIM:614188
Temple Syndrome
ORPHA:254516
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
OMIM:109120
Cutis Laxa, Autosomal Recessive, Type Iib
OMIM:612940
Familial Thrombocytosis
ORPHA:71493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
OMIM:613153
Mucopolysaccharidosis, Type Vii
OMIM:253220
Immunodeficiency 14A, Autosomal Dominant
OMIM:615513
Dysplastic Cortical Hyperostosis
ORPHA:2204
Premature Aging Syndrome, Penttinen Type
OMIM:601812
Noonan Syndrome-Like Disorder With Loose Anagen Hair
ORPHA:2701
Immunodeficiency 27A
OMIM:209950
Autoimmune Lymphoproliferative Syndrome
OMIM:601859
Beta-Thalassemia Intermedia
ORPHA:231222
Autoimmune Lymphoproliferative Syndrome
ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 3
OMIM:612526
Dislocation Of The Hip-Dysmorphism Syndrome
ORPHA:2412
Sclerosing Cholangitis, Neonatal
OMIM:617394
Dandy-Walker Malformation With Postaxial Polydactyly
OMIM:220220
Stickler Syndrome Type 1
ORPHA:90653
Congenital Toxoplasmosis
ORPHA:858
Bresek Syndrome
ORPHA:85284
Wolman Disease
ORPHA:75233
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
ORPHA:77298
Combined Immunodeficiency Due To Crac Channel Dysfunction
ORPHA:169090
Lissencephaly 5
OMIM:615191
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
OMIM:616482
Lcat Deficiency
ORPHA:650
Omenn Syndrome
ORPHA:39041
Melanocytic Nevus Syndrome, Congenital
OMIM:137550
Lujan-Fryns Syndrome
ORPHA:776
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
OMIM:608154
Leukocyte Adhesion Deficiency, Type Iii
OMIM:612840
Autoimmune Hepatitis
ORPHA:2137
Central Neurocytoma
ORPHA:73256
Infantile Sialic Acid Storage Disease
OMIM:269920
Indolent Systemic Mastocytosis
ORPHA:98848
Congenital Disorder Of Glycosylation, Type Ie
OMIM:608799
Acrocephalopolysyndactyly Type Iii
OMIM:101120
Babesiosis
ORPHA:108
Pycnodysostosis
ORPHA:763
Frontonasal Dysplasia 1
OMIM:136760
Central Precocious Puberty
ORPHA:759
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
OMIM:307000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
ORPHA:163961
Gaucher Disease, Type I
OMIM:230800
Bile Acid Synthesis Defect, Congenital, 1
OMIM:607765
Lymphedema-Distichiasis Syndrome
ORPHA:33001
Polycythemia Vera
ORPHA:729
Dehydrated Hereditary Stomatocytosis 2
OMIM:616689
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
OMIM:300863
Hydrocephalus, Normal-Pressure, 1
OMIM:236690
Caroli Disease
ORPHA:53035
Krabbe Disease
OMIM:245200
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
ORPHA:83473
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
OMIM:615287
Hydrocephalus With Associated Malformations
OMIM:236640
Immunodeficiency, Common Variable, 1
OMIM:607594
Greig Cephalopolysyndactyly Syndrome
ORPHA:380
Diabetic Embryopathy
ORPHA:1926
Osteopetrosis, Autosomal Recessive 8
OMIM:615085
Osteopetrosis, Autosomal Recessive 4
OMIM:611490
Bile Acid Synthesis Defect, Congenital, 2
OMIM:235555
Congenital Disorder Of Glycosylation, Type Iij
OMIM:613489
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
OMIM:614195
Ventriculomegaly With Defects Of The Radius And Kidney
OMIM:602200
B-Cell Expansion With Nfkb And T-Cell Anergy
OMIM:616452
Hemochromatosis, Type 2A
OMIM:602390
Spondylometaphyseal Dysplasia, Axial
OMIM:602271
Congenital Muscular Dystrophy, Fukuyama Type
ORPHA:272
Hyperparathyroidism-Jaw Tumor Syndrome
ORPHA:99880
Ritscher-Schinzel Syndrome 1
OMIM:220210
Thanatophoric Dysplasia, Type I
OMIM:187600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
OMIM:618935
Gaucher Disease, Type Ii
OMIM:230900
Mental Retardation, Autosomal Dominant 35
OMIM:616355
Atelosteogenesis, Type Iii
OMIM:108721
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
ORPHA:228396
Nephronophthisis 19
OMIM:616217
Felty Syndrome
ORPHA:47612
L1 Syndrome
ORPHA:275543
Griscelli Syndrome
ORPHA:381
Polycythemia Vera
OMIM:263300
Farber Lipogranulomatosis
OMIM:228000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
OMIM:603387
Crouzon Disease
ORPHA:207
Muscle-Eye-Brain Disease
ORPHA:588
Oculodentodigital Dysplasia, Autosomal Recessive
OMIM:257850
Parathyroid Carcinoma
ORPHA:143
Autoimmune Lymphoproliferative Syndrome, Type Iia
OMIM:603909
Gaucher Disease, Type Iii
OMIM:231000
Leishmaniasis
ORPHA:507
Axial Mesodermal Dysplasia Spectrum
ORPHA:1834
Zimmermann-Laband Syndrome
ORPHA:3473
Greig Cephalopolysyndactyly Syndrome
OMIM:175700
Osteogenic Sarcoma
OMIM:259500
Erythrocytosis, Familial, 8
OMIM:222800
Mandibulofacial Dysostosis-Microcephaly Syndrome
ORPHA:79113
Nasu-Hakola Disease
ORPHA:2770
3C Syndrome
ORPHA:7
Beta-Thalassemia
ORPHA:848
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
OMIM:218000
Immunodeficiency, Common Variable, 8, With Autoimmunity
OMIM:614700
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
OMIM:600559
Aredyld Syndrome
ORPHA:1133
Aarskog-Scott Syndrome
ORPHA:915
Sea-Blue Histiocytosis
ORPHA:158029
Keipert Syndrome
ORPHA:2662
Thrombocythemia 1