Gene Summary

Name:
toll-like receptor 4
Synonyms:
Rasl2-8,  Lps,  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
enlarged uterus Tlr4tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged cecum Tlr4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal uterus morphology Tlr4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal cecum morphology 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 0.0% (0 of 2)
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 0.0% (0 of 2)
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 0.0% (0 of 2)
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 0.56% (3 of 534)
aorta 0.19% (1 of 540)
blood 0.0%
bone marrow 0.0%
brain 0.94% (5 of 533)
brainstem 0.38% (2 of 529)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 525)
cecum 4.65% (16 of 344)
cerebellum 0.55% (3 of 544)
cerebral cortex 0.38% (2 of 533)
chest bone Unavailable
colon 13.11% (16 of 122)
diaphragm 0.0%
duodenum 4.13% (5 of 121)
epididymis 14.18% (19 of 134)
esophagus 1.63% (6 of 369)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.83% (1 of 121)
heart 0.19% (1 of 522)
hindlimb 0.0%
hippocampus 0.37% (2 of 545)
hypothalamus 0.38% (2 of 532)
ileum 14.75% (18 of 122)
jejunum 8.59% (11 of 128)
kidney 4.79% (26 of 543)
large intestine 5.31% (28 of 527)
liver 0.0%
lower urinary tract 0.19% (1 of 529)
lung 0.37% (2 of 536)
lymph node 0.18% (1 of 544)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.35% (1 of 282)
midbrain 0.0%
olfactory lobe 0.37% (2 of 537)
ovary 0.18% (1 of 543)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.19% (1 of 529)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 541)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.86% (10 of 537)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 533)
small intestine 5.01% (27 of 539)
spinal cord 0.55% (3 of 543)
spleen 0.38% (2 of 531)
stomach 3.77% (20 of 530)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 0.78% (1 of 128)
testis 1.13% (6 of 530)
thymus 0.19% (1 of 534)
thyroid gland 3.01% (16 of 532)
tongue 4.07% (5 of 123)
trachea 0.56% (3 of 535)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.82% (17 of 353)
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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Ataxia, Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointesti... 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
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
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, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... OMIM:616022
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... OMIM:618986
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Osteoarthritis Susceptibility 3
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... OMIM:607850
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Adenomyosis
Adenomyosis OMIM:600458
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Immunodeficiency 32A
Lymphadenopathy, Recurrent infections OMIM:614893
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Generalized lymphadenopathy, Recurrent mycobac... OMIM:615978
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Vascular Hyalinosis
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Chorioretinal scar, Protein-losin... OMIM:277175
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... OMIM:132900
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Myocarditis ORPHA:2724
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypercholesterolemia, Familial, 4
Atherosclerosis OMIM:603813
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Optic... OMIM:618889
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hematochezia, Thrombocytopenia, Osteolysis, Gastrointestinal hemorrhage, Abnormal lung mo... ORPHA:464321
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Persistent EBV viremia, Decreased proportion of class... OMIM:619126
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Kerion Celsi
Recurrent skin infections, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent cutan... ORPHA:499
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... OMIM:608971
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hermansky-Pudlak Syndrome 1
Colitis, Ocular albinism, Bruising susceptibility, Abdominal pain, Hypopigmentation of the skin, ... OMIM:203300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... OMIM:619220
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hyperlipoproteinemia, Type Iv
Precocious atherosclerosis OMIM:144600
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... ORPHA:494424
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Hepatomegaly, Foll... OMIM:300635
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis OMIM:618463
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly, Pigmentary retinopathy OMIM:609016
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Omphalocele, Bloody diarrhea, Colonic atresia, Jejunal atresia, Recurrent respirato... OMIM:243150
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion OMIM:144300
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Anal fissure, S... ORPHA:209964
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233710
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... ORPHA:228302
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Reduced left ventricular ejection fraction, Increased inflammatory response, ... ORPHA:542323
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Abnormality of retinal pigmentation, Multiple lipomas, Emphysema, Pneumo... ORPHA:122
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Flynn-Aird Syndrome
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... OMIM:136300
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pa... OMIM:615846
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... ORPHA:276
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Omenn Syndrome
Recurrent fungal infections, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymph... OMIM:603554
Autosomal Agammaglobulinemia
Sepsis, Diarrhea, Malabsorption, Osteomyelitis, Fever, Cellulitis, Dehydration, Arthritis, Hepati... ORPHA:33110
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Fulminant hepatitis, Cholangitis... OMIM:242850
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233690
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Feeding difficulties, Splenomegaly, Osteopetrosis, Anemia, Optic atrophy, Facial pa... OMIM:615085
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hypothermia, Hepatomegaly, Micronodular cirrhosis, Pe... OMIM:251880
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Ataxia, Type II diabetes mellitus, Giant cell hepatitis, Cholestatic liver diseas... ORPHA:79095
Sea-Blue Histiocyte Disease
Foam cells OMIM:269600
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Otitis media, Diarrhea, Pneumonia, Erythroderma, Failure to thrive secondary to recurrent infecti... ORPHA:169160
X-Linked Agammaglobulinemia
Sepsis, Abnormality of the tonsils, Abnormal lung morphology, Weight loss, Malabsorption, Osteomy... ORPHA:47
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... ORPHA:2070
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Fish-Eye Disease
Angina pectoris, Atherosclerosis ORPHA:79292
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Neuroendocrine Tumor Of The Rectum
Melena, Bowel urgency, Bloody diarrhea, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bowel urgency, Bloody diarrhea, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... ORPHA:100082
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... OMIM:105835
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Eczema, Cholestasis, Hematochezia, Erythroderma, Recurrent fever, Sp... OMIM:615895
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased ... OMIM:243700
Apolipoprotein A-I Deficiency
Angina pectoris, Premature coronary artery atherosclerosis, Atherosclerosis ORPHA:425
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Premature coronary artery atherosclerosis, Myocardial infarction, Precocious ath... OMIM:176670
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia, Recurrent infections OMIM:615387
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hypouricemia, Renal, 1
Hyperuricosuria, Renal tubular epithelial necrosis, Acute kidney injury, Uric acid nephrolithiasis OMIM:220150
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, Decreased circu... OMIM:308230
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:618048
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Hepatospleno... OMIM:612840
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephriti... ORPHA:157
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
African Iron Overload
Increased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Hepatic bridg... ORPHA:139507
Congenital Enterovirus Infection
Respiratory distress, Hepatic failure, Sepsis, Cholestasis, Myocarditis, Hypothermia, Fever, Abno... ORPHA:292
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Kienbock Disease
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans ORPHA:97332
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells OMIM:245900
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ethylene Glycol Poisoning
Renal tubular dysfunction, Episodic respiratory distress, Pulmonary edema, Hematuria, Tachypnea, ... ORPHA:31826
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Carcinoid Syndrome
Increased serum serotonin, Intestinal carcinoid, Heart murmur, Facial telangiectasia, Rhinorrhea,... ORPHA:100093
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Abdominal Obesity-Metabolic Syndrome 4
Coronary artery atherosclerosis, Myocardial infarction, Hypertension, Accelerated atherosclerosis OMIM:618620
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Sepsis, Eczema, Sudden cardiac death, Hematochezia, Spontaneous hematoma... ORPHA:906
Retinitis Pigmentosa 6
Chorioretinal degeneration, Recurrent respiratory infections, Pigmentary retinopathy, Rod-cone dy... OMIM:312612
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... ORPHA:331206
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Increased circulating free fatty acid level, Prolonged QT interval, Increased... ORPHA:71212
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... OMIM:618261
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Vomiting, Pneumonia, Increased circulating free fatty acid le... ORPHA:26793
Purine Nucleoside Phosphorylase Deficiency
Otitis media, Impaired T cell function, Recurrent opportunistic infections, Tremor, Pneumonia, Re... OMIM:613179
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... ORPHA:228308
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Gastritis, Sepsis, Eczema, Decreased prealbumin ... ORPHA:37042
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis... OMIM:611490
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Abnormal ... OMIM:231100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Idiopathic Congenital Hypothyroidism
Hypothermia, Decreased circulating T4 concentration, Constipation, Facial edema, Delayed proximal... ORPHA:95717
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Sepsis, Diarrhea, Vo... ORPHA:454836
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis OMIM:620058
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hypertrop... ORPHA:330001
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Hypothermia, Decreased circulating T4 c... ORPHA:95716
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrophy, Cong... ORPHA:3156
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinom... OMIM:613244
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Diarrhea, Vomiting, Elevated circulating creatinine concentration, ... ORPHA:340
Shwachman-Diamond Syndrome
Eczema, Sepsis, Aplastic anemia, Macrocytic anemia, Pneumonia, Pancytopenia, Bone marrow hypocell... ORPHA:811
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Hypothermia, Decreased circulating T4 conc... ORPHA:226313
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B cells, Seborrheic der... OMIM:619693
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegal... OMIM:269840
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Abscess, Diarrhea, Vomiting, Myocarditis, Severe viral infection, E... ORPHA:36234
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Hepatomegaly, Neutrophilia, Myocarditis, B... ORPHA:829
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia, Feeding difficulties, Respiratory insufficiency, Hypertaurinemia,... OMIM:245400
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Ga... OMIM:613385
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Legionnaires Disease
Ataxia, Pancreatitis, Sepsis, Diarrhea, Abnormal pleura morphology, Myocarditis, Bone marrow hypo... ORPHA:549
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Ureteral obstruction, Urinary retention, Pneumonia, Respiratory failure, Ap... ORPHA:79404
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Moyamoya Disease 1
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... OMIM:618534
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Mogs-Cdg
Respiratory distress, Apnea, Decreased circulating IgA level, Decreased circulating IgG level, He... ORPHA:79330
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Hepatomegaly, Pancreatitis, Acr... ORPHA:280365
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Sepsis, Cyanosis, Tachycardia, Hypotension, Tachypnea, Pneumonia... ORPHA:70587
Poems Syndrome
Increased circulating prolactin concentration, Lipodystrophy, Hypogonadism, Weight loss, Sclerosi... ORPHA:2905
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Hepatocellular Carcinoma
Hepatomegaly, Diarrhea, Pedal edema, Esophageal varix, Weight loss, Poor appetite, Jaundice, Feve... ORPHA:88673
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Schnitzler Syndrome
Fever, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Vascu... ORPHA:37748
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... OMIM:618935
Osteoporosis
Osteoporosis OMIM:166710
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Japanese Encephalitis
Respiratory distress, Neutrophilia, Diarrhea, Vomiting, Increased circulating antibody level, Fev... ORPHA:79139
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Hematochezia, Perianal abscess OMIM:613148
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Feeding difficulties OMIM:617613
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... OMIM:612783
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Hepatomegaly, Diarrhea, Hyperuricemia, Weight loss, Cardiac arrest, Jaundice, Hypo... ORPHA:20
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... OMIM:601495
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Tangier Disease
Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis OMIM:205400
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... OMIM:300400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Diarrhea, Xerostomia, Vomiting, Hematochezia, Protein-lo... OMIM:175500
Graft Versus Host Disease
Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... ORPHA:39812
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent infection of the gastrointestinal tract, Recurren... ORPHA:486
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Uveitis, Elevated circula... ORPHA:99826
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Premature coronary artery atherosclerosis, Hypertension, Congestive heart ... OMIM:615703
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract in... OMIM:613101
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hepatic failure, Ele... ORPHA:159
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Desmoid Tumor
Malabsorption, Abnormality of retinal pigmentation, Abdominal pain, Desmoid tumors, Intestinal ob... ORPHA:873
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, T lymphoc... OMIM:601457
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Inability to walk, Hepatomegaly, Vomiting, Resp... ORPHA:26791
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Increased p... OMIM:615559
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Stroke, Restrictive cardiomyopathy, ... OMIM:264800
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation, Fever, Neoplasm o... ORPHA:2126
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... ORPHA:49041
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature arteriosclerosis, Peripheral arterial stenosis, Abnormal left ventricu... ORPHA:391665
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... OMIM:264470
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Scorpion Envenomation
Ataxia, Diarrhea, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Myoc... ORPHA:466677
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Leukocytosis, Abdominal pain, Diarrhea, Arrhythmia, Myocarditis, P... ORPHA:188
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Abnormal cardiovascula... ORPHA:289601
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Craniosynosto... OMIM:147060
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis ORPHA:230839
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Gaucher Disease Type 1
Hepatomegaly, Osteopenia, Osteolysis, Pedal edema, Pancytopenia, Increased circulating antibody l... ORPHA:77259
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Weight loss,... ORPHA:781
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... OMIM:619164
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... ORPHA:435651
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
Late-Onset Isolated Acth Deficiency
Graves disease, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Seps... ORPHA:199299
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Decreased DLCO, Prot... OMIM:618913
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... ORPHA:70589
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Foam cells with lamellar inclusion bodies OMIM:607616
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome