Gene Summary

Name:
toll-like receptor 4
Synonyms:
Lps,  Rasl2-8,  lipopolysaccharide response

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
abnormal uterus morphology Tlr4tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged cecum Tlr4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal cecum morphology Tlr4tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged uterus Tlr4tm1.1(KOMP)Vlcg HOM Early adult 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
Epididymis  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 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
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland 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
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
No Embryo expression data was found for this gene.

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

3 Images

Human diseases caused by Tlr4 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 Tlr4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Behçet Disease
Pleuritis, Pericarditis, Retrobulbar optic neuritis, Weight loss, Anorexia, Optic neuritis, Pulmo... ORPHA:117

The table below shows human diseases predicted to be associated to Tlr4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Myelolymphatic Insufficiency
Recurrent viral infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent bacteria... OMIM:310350
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia, Recurrent staphylococcal infections, ... ORPHA:70592
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Generalized ly... OMIM:618986
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacteria... OMIM:300310
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration, Ileitis OMIM:618287
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... OMIM:613502
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 32A
Recurrent infections, Lymphadenopathy OMIM:614893
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial ... OMIM:608957
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Vascular Hyalinosis
Premature graying of hair, Hematochezia, Subarachnoid hemorrhage, Protein-losing enteropathy, Dia... OMIM:277175
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Myocarditis ORPHA:2724
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Lymphopenia, D... OMIM:615615
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Bone ... OMIM:618889
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Recurrent infections, Polyarticular arthriti... OMIM:235900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Abnormal left ventricular function, Patent ductus arteriosus, Coronary arte... OMIM:132900
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Persistent EBV viremia, Bronchiectasis, Fo... OMIM:619126
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Lymphadenitis, Severe toxoplas... ORPHA:319552
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intracranial hemorrhage, Melena, Cerebra... ORPHA:464321
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Freckling, Albinism, Prolonged bleeding time, Freckles in su... OMIM:203300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Generalized lymphadenopathy, Osteom... OMIM:615978
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Lymphadenopathy, Inflammatory a... ORPHA:499
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Aneurysm, Intracranial Berry, 12
Arterial fibromuscular dysplasia, Internal carotid artery dissection, Subarachnoid hemorrhage, Ce... OMIM:618734
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Hyperlipoproteinemia, Type Iv
Precocious atherosclerosis OMIM:144600
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Increased circulating ... OMIM:300635
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Decreased specific anti-polysa... OMIM:300853
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Adult Acute Respiratory Distress Syndrome
Sepsis, Dyspnea, Abnormal serum interleukin level, Shock, Hypotension, Pneumonia, Abnormality of ... ORPHA:70578
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy, Cardiomyopathy OMIM:609016
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:275
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Herpes simplex encephali... OMIM:618982
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Hypouricemia, Renal, 1
Uric acid nephrolithiasis, Increased urinary urate, Renal tubular epithelial necrosis, Acute kidn... OMIM:220150
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion OMIM:144300
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, My... ORPHA:73263
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233710
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Failure to th... OMIM:269840
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Elevated circulating creatinine concentration, Diarrhea, Pulmonary edema, Vomiting, Re... ORPHA:542323
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Neutropenia, Dehydration, Diarrhea, Sinusitis, Osteomyelitis, M... ORPHA:33110
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Abnormality of retinal pigmentation, Emphysema, Multiple lipomas, Pneumo... ORPHA:122
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Reduced delayed hypersensit... OMIM:607624
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Stage 5 chronic... ORPHA:228302
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Subarachnoid hemorrhage, Arteriosclerosis, Hypertens... ORPHA:494424
X-Linked Agammaglobulinemia
Skin rash, Hypocalcemia, Neutropenia, Weight loss, Anemia, Sinusitis, Abnormality of the tonsils,... ORPHA:47
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Erythroderma, Recurrent viral infections, ... OMIM:603554
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Decreased circulating T4 level, Const... ORPHA:95717
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Pneumonia, Anorexia, Recurrent abscess forma... ORPHA:169160
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Osteopetrosis, Autosomal Recessive 8
Feeding difficulties, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Facial palsy, Anemia, Spleno... OMIM:615085
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent pneumonia, Osteomyelitis, Recurrent Staphylococcus au... OMIM:233690
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... OMIM:617514
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Abdominal pain, Leukocytosis, Abnormality of the gastrointe... ORPHA:2070
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Helicob... ORPHA:2688
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Palpitations, Tenesmus, Right ventricular failure, Bowel urgency, Abdominal... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Palpitations, Tenesmus, Right ventricular failure, Bowel urgency, Abdominal... ORPHA:100082
Familial Thyroid Dyshormonogenesis
Lethargy, Goiter, Delayed proximal femoral epiphyseal ossification, Increased radioactive iodine ... ORPHA:95716
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Abnormal esophagus morphology, Pneumon... ORPHA:1163
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Recurrent infections, Lymphadenopathy OMIM:615387
Fish-Eye Disease
Angina pectoris, Atherosclerosis ORPHA:79292
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Recurrent skin infections, Anemia, Splenomegaly, Seps... OMIM:612840
Ethylene Glycol Poisoning
Renal insufficiency, Episodic respiratory distress, Hematuria, Renal tubular dysfunction, Renal t... ORPHA:31826
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... OMIM:176670
Congenital Enterovirus Infection
Polyhydramnios, Skin rash, Hydrops fetalis, Pericardial effusion, Neutropenia, Hypoalbuminemia, L... ORPHA:292
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Neonata... ORPHA:157
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility... OMIM:266265
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Lcat Deficiency
Atherosclerosis, Hypertension ORPHA:650
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells OMIM:245900
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
African Iron Overload
Peritonitis, Increased circulating ferritin concentration, Increased circulating cortisol level, ... ORPHA:139507
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Mildly elevated creatine kinase, Diarrhea, Vomiting, Hyperammonemi... ORPHA:71212
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Retinitis Pigmentosa 6
Rod-cone dystrophy, Chorioretinal degeneration, Recurrent respiratory infections, Pigmentary reti... OMIM:312612
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Protuberant abdomen, Decreased circulating T4 level, Constipation, ... ORPHA:226313
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Overweight, Pericardial effusion, Pneumonia, Jaundice, Small for gestational age, V... ORPHA:26793
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Nasogastric tube feeding, Decreased prealbumin level, Interstitial pneumonitis, Ecz... ORPHA:37042
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Avian Influenza
Cough, Pneumonia, Diarrhea, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive protein ... ORPHA:454836
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion,... ORPHA:330001
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Abnormality of B cell physi... OMIM:613179
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Neonata... ORPHA:228308
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Petechiae, Facial palsy, Hepatosp... OMIM:611490
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Coronary artery atherosclerosis, Accelerated atherosclerosis, Hypertension OMIM:618620
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormal bleeding, Cirrhosis, Hepatocellular necros... OMIM:231100
Legionnaires Disease
Pericarditis, Cough, Respiratory insufficiency, Anorexia, Jaundice, Diarrhea, Myocarditis, Lympha... ORPHA:549
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... ORPHA:79404
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:913
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Hyperostosis, Anemia, Sinusitis, Eczema, ... ORPHA:906
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Dysphagia, Diffuse hepatic steatosis, Wide nasal bridge, Hepatomegaly, Op... OMIM:264470
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, ... ORPHA:169090
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Adult-Onset Still Disease
Skin rash, Pleuritis, Pericarditis, Joint swelling, Generalized lymphadenopathy, Abnormal circula... ORPHA:829
Carcinoid Syndrome
Lack of bowel sounds, Carcinoid tumor, Tricuspid regurgitation, Intestinal carcinoid, Bronchospas... ORPHA:100093
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Hypertension, Retinal dystrophy, Congenital hepatic fibrosis... ORPHA:3156
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Elevated circulating C-reactive protein concentration, Leukopenia, Shock, Neutr... ORPHA:36238
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Respiratory insufficiency, Hypoglycemia, Dec... OMIM:618329
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Ring Chromosome 14 Syndrome
Anteverted nares, Pigmentary retinopathy, Depressed nasal bridge OMIM:616606
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:435660
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis OMIM:615947
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Anemia, Leukopenia, Sinusitis, Eczema, Osteomyel... ORPHA:811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Eczema, Lymphadenopathy, T ly... OMIM:606367
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Abnormal abdom... OMIM:243150
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Recurrent opportunistic infections, Increased circulating IgE ... ORPHA:277
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion OMIM:252350
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Camptodactyly, Choanal atresia, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Reduce... OMIM:613385
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Pneumonia, Weight loss, Abnormal circulating lipid conc... ORPHA:2298
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Feeding difficulties, Hyperglycinemia, Elevated circulating alanine aminotransferase concentratio... OMIM:245400
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Sepsis, Hypotension, Pneumonia, Atelectasis, Respiratory failure, Na... ORPHA:70587
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Japanese Encephalitis
Dystonia, Respiratory paralysis, Anorexia, Diarrhea, Pulmonary edema, Inappropriate antidiuretic ... ORPHA:79139
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Decreased circulating T4 level, Pituitary hypothyroidism, Facial edema, Hyp... ORPHA:90674
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Stiff interphalangeal joints, Limited shoulder movement, Chro... ORPHA:39812
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis OMIM:300455
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Osteoporosis
Osteoporosis OMIM:166710
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Poems Syndrome
Pericardial effusion, Weight loss, Pulmonary arterial hypertension, Sclerosis of skull base, Lymp... ORPHA:2905
3-Hydroxy-3-Methylglutaric Aciduria
Hyperuricemia, Weight loss, Anorexia, Jaundice, Dehydration, Diarrhea, Cardiac arrest, Leukopenia... ORPHA:20
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Acroosteolysis of distal phalanges (feet... ORPHA:280365
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Vomiting, Elevated circulating creatine kinase concentration, Cardiomyo... ORPHA:26791
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Monosomy 13Q34
Insulin resistance, Hematochezia, Hepatic steatosis, Epistaxis, Prominent nose, Pulmonic stenosis... ORPHA:96168
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Hepatom... ORPHA:37748
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Decreased DLCO, Glycos... OMIM:618913
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections, Recurrent bacterial infectio... OMIM:612783
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Hyperammonemia, Arrhythmia, Lethargy, Elevated ... ORPHA:159
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Tangier Disease
Myocardial infarction, Coronary artery atherosclerosis, Atherosclerosis OMIM:205400
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Feeding difficulties OMIM:617613
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Premature coronary artery atherosclerosis, Hyper... OMIM:615703
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Weight loss, Anorexia, Diarrhea, Hypercalcemia,... ORPHA:199299
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Abdominal pain, Hematochezia, Gastrointestinal carcinoma, Anorexia, Protein-losing enteropathy, X... OMIM:175500
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... OMIM:613101
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased ci... OMIM:300400
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Weight loss, Jaundice, Palmar telangiectasia, Hypoalbum... ORPHA:171
Systemic Capillary Leak Syndrome
Arrhythmia, Cardiorespiratory arrest, Pericarditis, Abdominal pain, Leukocytosis, Pleural effusio... ORPHA:188
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature coronary artery atherosclerosis, Coronary artery aneurysm, ... ORPHA:391665
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Desmoid Tumor
Abnormality of retinal pigmentation, Osteolysis, Gastrointestinal hemorrhage, Abdominal pain, Des... ORPHA:873
Majeed Syndrome
Cough, Weight loss, Increased bone mineral density, Increased susceptibility to fractures, Osteom... ORPHA:77297
Scorpion Envenomation
Cardiac conduction abnormality, Increased circulating NT-proBNP concentration, Diarrhea, Pulmonar... ORPHA:466677
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency 47
Decreased circulating antibody level, Recurrent bacterial infections, Leukopenia, Splenomegaly OMIM:300972
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Constipation, Neoplasm of the liver, Wei... ORPHA:2126
Gaucher Disease Type 1
Pericardial effusion, Increased bone mineral density, Pancytopenia, Anorexia, Delayed puberty, Pa... ORPHA:77259
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial tortuosity, Arterial calcification, Abnormal cardiovascular system physiology, Arterial ... ORPHA:289601
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Recurrent viral infections, Recur... ORPHA:486
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Anasarca, Hemobilia, Budd-Chiari syndrome, Weight loss, A... ORPHA:88673
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Chronic oral candidia... OMIM:150550
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Q Fever
Pericarditis, Cough, Pericardial effusion, Abnormal left ventricular function, Pneumonia, Weight ... ORPHA:781
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Retinal degeneration, Splenomegaly, Optic atrophy, Rod-cone dystrophy OMIM:602271
Nk-Cell Enteropathy
Gastric ulcer, Increased T cell count, Hematochezia, Abdominal pain, Constipation, Gastroesophage... ORPHA:263665
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Lethargy, Hyperammonemia, Hepatocellular n... OMIM:201475
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Limited knee extension, Mildly elevated c... OMIM:600969
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Recurrent fung... OMIM:147060
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Dehydration, Diarrhea, Edema, Hypoalbumine... ORPHA:103910
Turcot Syndrome With Polyposis
Abnormal macular morphology, Abdominal pain, Hematochezia, Constipation, Nausea, Papilledema, Epi... ORPHA:99818
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Histiocytoid Cardiomyopathy
Cough, Atrial flutter, Pulmonary edema, Cardiomegaly, Vomiting, Junctional ectopic tachycardia, C... ORPHA:137675
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... OMIM:615122