Gene: Cd44 MGI:88338

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

CD44 antigen

Synonyms:

Pgp-1, HERMES, Ly-24

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cd44 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.

Human diseases associated with Cd44 (0 diseases)
Human diseases predicted to be associated with Cd44 (1130 diseases)

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

The table below shows human diseases predicted to be associated to Cd44 by phenotypic similarity.

Disease	Matching phenotypes	Source
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Congenital alopecia totalis, Ridged nail, T lymphocytopenia, Nail pits	ORPHA:169095
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Nail dys...	OMIM:601705
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 86	Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:312863
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 18	Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Glycoprotein Storage Disease	Gout	OMIM:232900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Alopecia Areata 2	Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis	OMIM:610753
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 24	Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate...	OMIM:615897
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Hypotrichosis Simplex	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair	OMIM:203655
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hypotrichosis 4	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes	OMIM:146550
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Alopecia Areata 1	Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia	OMIM:104000
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Reticular Dysgenesis	Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct...	OMIM:267500
Systemic Lupus Erythematosus 16	Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod...	OMIM:614420
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars...	OMIM:615059
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia	ORPHA:701
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decreased ci...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Decreased circulating antibody level, Hepatitis, Folliculitis, ...	OMIM:300635
Severe Combined Immunodeficiency, X-Linked	Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ...	OMIM:300400
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Antinuclear antibody positivity	OMIM:613495
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Syndactyly Type 4	Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Recurrent respiratory infections, Reduced natural killer cell activity, Decrease...	OMIM:308240
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair	ORPHA:505
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the...	OMIM:607778
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,...	ORPHA:2722
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints	ORPHA:50809
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Autoimmunity, Nephritis	OMIM:216950
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Thin toenail, Sparse hair, Dystrophic toenail	OMIM:614928
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:611926
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia	ORPHA:499
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 19	Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology	OMIM:615617
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S...	OMIM:118651
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas...	ORPHA:169154
Acromesomelic Dysplasia 2C	Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop...	OMIM:201250
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections...	OMIM:613953
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis	OMIM:615612
Acromesomelic Dysplasia 2A	Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas...	OMIM:200700
Idiopathic Steroid-Resistant Nephrotic Syndrome	Pulmonary embolism, Abnormal circulating lipid concentration, Abnormal urine output, Acute kidney...	ORPHA:567548
C1Q Deficiency 1	Systemic lupus erythematosus, Autoimmunity	OMIM:613652
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Osebold-Remondini Syndrome	Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp...	OMIM:112910
Angel-Shaped Phalangoepiphyseal Dysplasia	Premature osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger ...	OMIM:105835
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Congenital alopecia totalis, Alopecia universalis	OMIM:104130
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Immunodeficiency 20	Reduced natural killer cell activity, Recurrent sinusitis, Recurrent otitis media, Recurrent vira...	OMIM:615707
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails	OMIM:617294
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly	OMIM:608898
Caspase 8 Deficiency	Decreased T cell activation, Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmo...	OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iii	Elevated circulating alanine aminotransferase concentration, Absent isohemagglutinin level, Reduc...	OMIM:615559
Acromesomelic Dysplasia, Grebe Type	Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar...	ORPHA:2098
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-...	OMIM:619374
Immunodeficiency 11	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo...	OMIM:615206
Kienbock Disease	Osteochondritis dissecans, Osteoarthritis, Abnormality of the wrist, Limitation of joint mobility	ORPHA:97332
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla...	OMIM:619281
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o...	OMIM:601376
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Bacterial Toxic-Shock Syndrome	Hypotension, Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentr...	ORPHA:36234
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Léri-Weill Dyschondrosteosis	Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality...	ORPHA:240
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Genetic Steroid-Resistant Nephrotic Syndrome	Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Foca...	ORPHA:656
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level	OMIM:609529
Leri-Weill Dyschondrosteosis	Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ...	OMIM:127300
Hidrotic Ectodermal Dysplasia	Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ...	ORPHA:189
Trichodysplasia-Xeroderma Syndrome	Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ...	ORPHA:3361
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci...	ORPHA:169160
Ectodermal Dysplasia 4, Hair/Nail Type	Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O...	OMIM:602032
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Reduced natural killer cell activity, Skin rash, Diffuse alveolar hemorrhage, Incr...	OMIM:616050
Microscopic Polyangiitis	Glomerulopathy, Diarrhea, Skin rash, Arthritis, Peritonitis, Hematuria, Congestive heart failure,...	ORPHA:727
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
African Iron Overload	Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Congestiv...	ORPHA:139507
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Diarrhea, Arthritis, Increased circulating IgA level, Gastrointest...	ORPHA:343
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E...	OMIM:226990
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 76	Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia	OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Lethal Faciocardiomelic Dysplasia	Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp...	ORPHA:1972
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Hepatomegaly, Impaired memory B cell generation, Splenomegaly, Decreased ...	OMIM:308230
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Langer Mesomelic Dysplasia	Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi...	OMIM:249700
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ...	OMIM:607594
Immunodeficiency 56	Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurr...	OMIM:615207
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Hypertension, Serositis...	ORPHA:567544
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Vomiting, Increased circulating interleukin 6 concentration, Reduced left ventricula...	ORPHA:542323
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Idiopathic Achalasia	Bronchitis, Decreased prealbumin level, Recurrent aspiration pneumonia, Cough, Wheezing	ORPHA:930
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Arthritis, Osteochondritis dissecans, Tarsal stippling, Chondritis, Abnormal ta...	ORPHA:563991
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Increased circulating interleukin 6 concentration, Abnormality of tumor ...	ORPHA:540
Systemic Lupus Erythematosus 17	Leukopenia, Alopecia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Skin ...	ORPHA:33110
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin...	OMIM:161900
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia	OMIM:266265
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Hip osteoarthritis, Autoimmunity, Abnormality of the wrist, Limitation of jo...	ORPHA:2619
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Neonatal s...	OMIM:619217
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Aspergillosis	Osteomyelitis, Bronchiectasis, Hepatitis, Asthma, Pleuritis, Intracranial hemorrhage, Abnormality...	ORPHA:1163
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Glomerulonephritis, Pneumonia	OMIM:247800
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Pleuritis, Elevated he...	ORPHA:829
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Alopecia, Anemia, Sparse scalp hair, Hypoplastic toenails, Fingernail dysplasi...	ORPHA:2325
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia...	OMIM:617638
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Peritonitis, Erysipelas, Proteinuria, Renal amyloidosis	OMIM:134610
Immunodeficiency 66	Defective T cell proliferation, Pustule, Recurrent skin infections	OMIM:618847
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased...	OMIM:615513
Necrobiosis Lipoidica	Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing	OMIM:246570
Acheiropody	Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas...	OMIM:200500
Autoimmune Hepatitis	Increased total bilirubin, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Increased circulati...	ORPHA:2137
L-Ferritin Deficiency	Alopecia	OMIM:615604
Infection-Related Hemolytic Uremic Syndrome	Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Diarrhea, Oliguria, Hyponatremia,...	ORPHA:544482
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Recurrent aspiration pneumonia, Syndactyly	OMIM:300484
Mastocytosis, Cutaneous	Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis	OMIM:154800
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology	ORPHA:1008
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Avian Influenza	Pneumothorax, Productive cough, Elevated hepatic transaminase, Elevated circulating creatine kina...	ORPHA:454836
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Arthropa...	OMIM:208250
Shigellosis	Hemolytic-uremic syndrome, Bloody diarrhea, Abnormal blood ion concentration, Hyponatremia, Pneum...	ORPHA:810
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Legionnaires Disease	Hypotension, Endocarditis, Respiratory insufficiency, Abnormal pleura morphology, Hepatitis, Jaun...	ORPHA:549
C3 Glomerulopathy	Mesangial hypercellularity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute...	ORPHA:329918
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:178320
Familial Mediterranean Fever	Crohn's disease, Vomiting, Diarrhea, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthriti...	OMIM:249100
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Decreased activity of mitochondrial complex IV, Recurrent respiratory infections, Increased mitoc...	OMIM:619063
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks, Recurrent upper re...	OMIM:615139
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr...	ORPHA:158061
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity	OMIM:607624
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Monilethrix	Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy	OMIM:158000
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, Wheezing, Eleva...	OMIM:613490
Mesomelic Dysplasia, Savarirayan Type	Short tibia, Abnormal foot morphology, Hip dislocation, Dislocated radial head, Talipes equinoval...	OMIM:605274
Dyschondrosteosis And Nephritis	Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis	OMIM:127350
Bare Lymphocyte Syndrome, Type Ii	Panhypogammaglobulinemia, Biliary tract abnormality, Cholangitis, Viral hepatitis, Cutaneous aner...	OMIM:209920
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Gait ataxia, Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte pr...	ORPHA:572
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication	OMIM:188740
Primary Peritoneal Carcinoma	Peritonitis, Neoplasm, Constipation	ORPHA:168829
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,...	OMIM:612447
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased...	ORPHA:183675
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Aspiration pneumonia, Elevated circulating creatine kinase concentra...	ORPHA:90117
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Marie Unna Hereditary Hypotrichosis	Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye...	ORPHA:444
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatic...	ORPHA:186
X-Linked Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous abscess forma...	ORPHA:47
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma...	ORPHA:2889
Testicular Regression Syndrome	Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo...	ORPHA:983
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Bloody diarrhea, Anuria, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Acute kidney injury...	ORPHA:90038
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:240500
Adult Acute Respiratory Distress Syndrome	Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac...	ORPHA:70578
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Ataxia, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:611182
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Reduced natural killer cell activity, Skin rash, Jaundice, Elevated he...	OMIM:603553
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ...	OMIM:617744
Necrotizing Enterocolitis	Hypotension, Bloody diarrhea, Vomiting, Diarrhea, Shock, Hyponatremia, Peritonitis, Bradycardia	ORPHA:391673
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Recurr...	OMIM:300853
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Micrognathia, Clinoda...	OMIM:201170
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Arthritis, Limitation of joint mobility, Joint swelling, Chondrocalcinosis, Os...	ORPHA:1416
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Arthritis, Otitis media, Pneumonia	OMIM:601457
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul...	OMIM:619632
Uncombable Hair Syndrome	Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology	ORPHA:1410
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Basal cell carcinoma, Peritonitis, Mesenteric cyst, Ovarian f...	ORPHA:314473
Crandall Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair	ORPHA:202
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Orofaciodigital Syndrome Type 10	Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty...	ORPHA:2756
Autoimmune Lymphoproliferative Syndrome	Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune...	OMIM:601859
Coccidioidomycosis	Abnormality of the bladder, Pericarditis, Panniculitis, Pneumonia, Osteomyelitis, Abnormality of ...	ORPHA:228123
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Conjunctivitis, Vomiting, Diarrhea, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericar...	ORPHA:32960
Familial Mediterranean Fever	Splenomegaly, Diarrhea, Nephrotic syndrome, Skin rash, Arthritis, Erysipelas, Pericarditis, Arrhy...	ORPHA:342
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Constipation	ORPHA:168816
Immunodeficiency 27A	Hepatosplenomegaly, Abnormal bronchus physiology, Increased inflammatory response, Increased circ...	OMIM:209950
Sweet Syndrome	Oligoarthritis, Acute myeloid leukemia, Breast carcinoma, Increased circulating interleukin 6 con...	ORPHA:3243
Indolent Systemic Mastocytosis	Skin rash, Mastocytosis, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Abnor...	ORPHA:98848
Short Rib-Polydactyly Syndrome	Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Polyhydramnios, Abnormal...	ORPHA:1505
Insulin Autoimmune Syndrome	Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti...	ORPHA:411593
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I...	OMIM:613502
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Polyhydramnios, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Edema...	OMIM:607143
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Paresthesia, Arthritis, Monoclonal elevation of IgG, Ray...	ORPHA:91139
Malignant Peritoneal Mesothelioma	Peritonitis, Neoplasm, Ileus	ORPHA:168811
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio	OMIM:617006
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia	OMIM:614379
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
Hypotrichosis 5	Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha...	OMIM:612841
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, Asthma,...	ORPHA:217390
Griscelli Syndrome	Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepatitis, Jaundi...	ORPHA:381
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Barth Syndrome	Recurrent infections in infancy and early childhood, Granulocytopenia, Recurrent bronchitis, Cong...	OMIM:302060
Tibial Hemimelia	Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me...	ORPHA:93322
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Immunodeficiency 68	Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia	OMIM:612260
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Respiratory tract infection, Splenomegaly, Recurrent otitis media	ORPHA:444463
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, T lymphocytopenia, Inflammatory abnormality of the skin, B lymphocytopen...	ORPHA:277
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Nail pits, Autoimmune thrombocytopenia, Thin nail, Circu...	ORPHA:79153
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholecystitis, Impaired neutrophil bactericidal activity, Nonsphero...	OMIM:613470
Eosinophilopenia	Autoimmunity	OMIM:131430
Thrombotic Thrombocytopenic Purpura	Diarrhea, Acute kidney injury, Hematuria, Decreased serum creatinine, Myocardial infarction, Prot...	ORPHA:54057
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Recurrent respiratory infections,...	OMIM:241600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Osteoarthritis, Hip osteoarthritis	OMIM:271600
Classic Mycosis Fungoides	Alopecia, Splenomegaly, Abnormal lymphocyte morphology, Abnormality of the nail	ORPHA:2584
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurr...	OMIM:614069
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz...	ORPHA:264675
Eiken Syndrome	Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss...	ORPHA:79106
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Bronchiectasis, Monocytopenia, Impaired neutrophil ...	OMIM:618986
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Dysdiadochokinesis, Truncal ataxia, Dysmetria, Hyperammonemia, Hepatomegaly, Hyperornithinemia, D...	OMIM:238970
Q Fever	Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural effusion, Abnormal left ...	ORPHA:781
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ...	ORPHA:1986
Hepatocellular Carcinoma	Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis	OMIM:114550
Fusariosis	Maculopapular exanthema, Osteomyelitis, Abnormality of the liver, Bronchiectasis, Abnormality of ...	ORPHA:228119
Zygomycosis	Diarrhea, Fasciitis, Pericarditis, Gastritis, Hematological neoplasm, Colitis, Hematemesis, Splen...	ORPHA:73263
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Elevated ci...	ORPHA:79095
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Micrognathia, Camptodactyly, Hypop...	OMIM:601559
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Listeriosis	Septic arthritis, Diarrhea, Pericarditis, Pneumonia, Splenic abscess, Endocarditis, Osteomyelitis...	ORPHA:533
Microsporidiosis	Prostatitis, Biliary tract abnormality, Myositis, Chronic diarrhea, Pneumonia, Lymphadenitis, End...	ORPHA:2552
Ovarian Fibrothecoma	Fibrosarcoma, Peritonitis, Ovarian fibroma, Diffuse leiomyomatosis	ORPHA:314478
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai...	OMIM:129500
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Urachal Cyst	Dysuria, Pyuria, Hematuria, Urachus fistula, Neoplasm, Elevated circulating C-reactive protein co...	ORPHA:488
Cyclic Neutropenia	Enterocolitis, Perianal abscess, Periodontitis, Sinusitis, Otitis media, Recurrent skin infection...	ORPHA:2686
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent otitis media, Fluctuating...	OMIM:619220
Ectodermal Dysplasia 7, Hair/Nail Type	Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor...	OMIM:614929
Halothane Hepatitis	Hepatitis, Viral hepatitis, Jaundice	OMIM:234350
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Oliver-Mcfarlane Syndrome	Alopecia, Long eyebrows, Long eyelashes, Sparse hair	OMIM:275400
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Hypertension, A...	ORPHA:275555
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa...	OMIM:613573
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ulcerative colitis...	OMIM:618935
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased...	OMIM:617765
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Crusting erythematous dermatitis, Elevated hepatic transaminase, Ecze...	ORPHA:37042
Whim Syndrome 1	Decreased circulating antibody level, Recurrent upper respiratory tract infections, Bronchiectasi...	OMIM:193670
Tularemia	Conjunctivitis, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflammatory a...	ORPHA:3392
Laurin-Sandrow Syndrome	Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab...	OMIM:135750
Budd-Chiari Syndrome	Cirrhosis, Peritonitis, Jaundice, Cholecystitis, Intestinal obstruction, Gastrointestinal hemorrh...	ORPHA:131
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer...	OMIM:614921
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m...	ORPHA:248
Congenital Enterovirus Infection	Hypotension, Hepatic failure, Hepatitis, Skin rash, Respiratory distress, Pleural effusion, Hyper...	ORPHA:292
Pneumocystosis	Respiratory insufficiency, Respiratory failure, Chronic oral candidiasis, Exertional dyspnea, Inc...	ORPHA:723
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp...	OMIM:612576
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon...	OMIM:273250
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abnormal mitochondrial morphology	OMIM:618528
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Jaundice, Emphysema, Hepatomegaly	ORPHA:60
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con...	OMIM:214950
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell ph...	OMIM:613179
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess	OMIM:618108
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Androgen Insensitivity Syndrome	Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, Ma...	ORPHA:754
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le...	OMIM:618982
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Re...	OMIM:616576
Leydig Cell Hypoplasia	Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell...	ORPHA:755
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Patent ductus arteriosus, Renal cortical hyperechogenicity, Elevated pulmonary artery pressure, A...	OMIM:619351
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Liver Disease, Severe Congenital	Aminoaciduria, Systolic heart murmur, Diarrhea, Eczema, Cholesteatoma, Elevated circulating alpha...	OMIM:619991
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Rheumatoid factor positive, Pro...	ORPHA:85435
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Hyperbilirubinemia, Sclerosing cholangitis, Elevated hepati...	ORPHA:562639
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Increased circulating interleukin 6 concentration, Dec...	OMIM:301082
Ebola Hemorrhagic Fever	Increased circulating antibody level, Hepatitis, Acute pancreatitis, Dyspnea, Cough, Gastrointest...	ORPHA:319218
Postinfectious Vasculitis	Ischemic stroke, Elevated haptoglobin level, Cerebral vasculitis, Viral hepatitis, Glomerulonephr...	ORPHA:48435
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi...	ORPHA:85188
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated hepatic tra...	ORPHA:79303
Aapoaiv Amyloidosis	Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal...	ORPHA:439232
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia, Pachygyria, Polymicrogyria	OMIM:609528
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt...	ORPHA:93356
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Joint laxity, Osteoarthritis, Joint hypermobility	OMIM:130020
Pili Torti-Onychodysplasia Syndrome	Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia...	ORPHA:2890
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Sparse hair	ORPHA:2251
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo...	ORPHA:2138
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Immunodeficiency 64 With Lymphoproliferation	Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Defective T cell proli...	OMIM:618534
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m...	ORPHA:573
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
Beta-Thalassemia	Respiratory insufficiency, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopath...	ORPHA:848
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Recurrent bacterial skin infections, Periportal fib...	ORPHA:101330
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic...	OMIM:607765
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Malignant Atrophic Papulosis	Abnormality of the lower urinary tract, Ischemic stroke, Myocardial infarction, Gastrointestinal ...	ORPHA:679
Porphyria Cutanea Tarda	Onycholysis, Alopecia, Facial hypertrichosis	OMIM:176100
Nephronophthisis-Like Nephropathy 2	Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated ci...	OMIM:619468
Microcephaly-Micromelia Syndrome	Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo...	OMIM:251230
Orofaciodigital Syndrome Iv	Short tibia, Toe syndactyly, Foot polydactyly, Micrognathia, Short finger, Hand polydactyly, Clin...	OMIM:258860
Primary Sclerosing Cholangitis	Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Ele...	ORPHA:171
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Staphylococcal Necrotizing Pneumonia	Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Shock, Pl...	ORPHA:36238
Idiopathic Bronchiectasis	Respiratory tract infection, Productive cough, Bronchiectasis, Abnormal respiratory system physio...	ORPHA:60033
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Sparse axillary hair, Bilateral cryptorchidism,...	ORPHA:99429
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Hyperbilirubinemia, Inf...	ORPHA:39812
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia...	ORPHA:98826
Alpha-Heavy Chain Disease	Alopecia, Anemia, Splenomegaly	ORPHA:100025
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis, Systemic lupus erythematosus, Antinuclear antibody positivity	OMIM:609939
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Asth...	OMIM:243700
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Immunodeficiency 52	Bronchiectasis, Decreased circulating antibody level, Recurrent pneumonia, Chronic lung disease, ...	OMIM:617514
Melioidosis	Septic arthritis, Respiratory tract infection, Prostatitis, Hepatitis, Liver abscess, Osteoarthri...	ORPHA:31202
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails	ORPHA:1882
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Chronic lung disease, Hashimoto thyroiditis, Decreased circulating IgA ...	OMIM:613385
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he...	OMIM:307200
Moynahan Syndrome	Alopecia, Sparse hair	ORPHA:2574
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Riddle Syndrome	Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Decreased circulating tot...	ORPHA:420741
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Atopic dermatitis, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sin...	OMIM:618282
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Slc35A2-Cdg	Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,...	ORPHA:356961
Rigid Spine Syndrome	Respiratory insufficiency, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary fu...	ORPHA:97244
Orofaciodigital Syndrome Ix	Short tibia, Recurrent aspiration pneumonia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Congenital Isolated Acth Deficiency	Hypotension, Hepatitis, Hyperkalemia, Hyponatremia, Prolonged neonatal jaundice	ORPHA:199296
Weismann-Netter Syndrome	Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow...	ORPHA:3344
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni...	OMIM:612444
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Hirsutism, Abnormal ...	OMIM:158330
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Immunodeficiency 92	Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia, Decreased circulating...	OMIM:619652
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Alopecia, Premature graying of hair, Lymphopenia, Nail pits, Ridged nail, Inc...	OMIM:127550
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Bleeding Disorder, Platelet-Type, 21	Alopecia, Thrombocytopenia, Increased mean platelet volume	OMIM:617443
Cronkhite-Canada Syndrome	Sparse body hair, Alopecia, Anemia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypopl...	ORPHA:2930
Omenn Syndrome	Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinoph...	OMIM:603554
Chediak-Higashi Syndrome	Leukopenia, Anemia, Ocular albinism, Spontaneous, recurrent epistaxis, Iris hypopigmentation, Gia...	OMIM:214500
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ...	ORPHA:1303
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Hepatitis, Cardiac arrest, Skin rash, Thyroiditis, Elevated hepatic...	ORPHA:139402
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:610163
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Aicardi-Goutieres Syndrome 7	Splenomegaly, Atrophic gastritis, Recurrent lower respiratory tract infections, Increased circula...	OMIM:615846
Premature Ovarian Failure 7	Absent pubic hair, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated c...	OMIM:612964
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr...	OMIM:619774
Ovarian Dysgenesis 6	Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:618078
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l...	OMIM:300291
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c...	OMIM:616100
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory...	OMIM:619510
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Arthritis, Eczema, Glomerulonephritis, Erythroderma, Increased circulating IgE level	OMIM:304790
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Decreased activity of mitochondrial co...	OMIM:615578
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Pseudopelade Of Brocq	Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal...	ORPHA:129
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Nail dysplasia, Sparse hair	OMIM:104100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic oral candidia...	ORPHA:276
Common Variable Immunodeficiency	Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Decreased circulating...	ORPHA:1572
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Recurrent s...	OMIM:618394
Thymic Aplasia	Hypocalcemic tetany, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to ...	ORPHA:83471
Tubulointerstitial Nephritis With Uveitis	Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat...	OMIM:607665
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating total IgM, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneous...	OMIM:619752
Immunodeficiency 82 With Systemic Inflammation	Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Hypernatremia, Splenome...	OMIM:619381
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Wiskott-Aldrich Syndrome	Decreased circulating total IgM, Reduced natural killer cell activity, Small vessel vasculitis, L...	OMIM:301000
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Wolff-...	OMIM:619705
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Splenomegaly, Decreased circulating IgG ...	OMIM:614700
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Rec...	OMIM:614878
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz...	OMIM:600785
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Recurrent otitis m...	OMIM:600802
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Hepatomegaly, Renal ...	ORPHA:85450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:606367
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e...	ORPHA:1106
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Joint hypermobility, Abnormality of ...	ORPHA:85410
Sézary Syndrome	Alopecia, Nail dystrophy, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:3162
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Bronchiectasis, Eczema, Recurrent otitis media, Keratitis, Recurrent respiratory infections, Incr...	OMIM:618523
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enterocolitis, Recurrent respiratory infections, Decreased circulating antibody level, Interface ...	OMIM:243150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Renal cyst, Gout, Nephropathy, Elevated circulating creatinine concentration, Foca...	OMIM:617056
Autoimmune Lymphoproliferative Syndrome, Type Iia	Malar rash, Splenomegaly, Increased B cell count, Elevated proportion of CD4-negative, CD8-negati...	OMIM:603909
Bjornstad Syndrome	Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Systemic Lupus Erythematosus	Malar rash, Antiphospholipid antibody positivity, Arthritis, Nephritis, Pericarditis, Systemic lu...	OMIM:152700
Secondary Non-Traumatic Avascular Necrosis	Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal...	ORPHA:166016
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc...	OMIM:233710
Alstrom Syndrome	Tubulointerstitial nephritis, Hyperuricemia, Chronic active hepatitis, Asthma, Elevated hepatic t...	OMIM:203800
Ovarian Dysgenesis 2	Streak ovary, Hirsutism, Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:300510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Intracranial hemorrhage	ORPHA:398189
Cranio-Osteoarthropathy	Abnormality of the knee, Arthritis, Eczema, Joint swelling, Joint stiffness, Osteoarthritis	ORPHA:1525
Acromesomelic Dysplasia 2B	Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ...	OMIM:228900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega...	OMIM:150550
Aggressive Systemic Mastocytosis	Hypotension, Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD2...	ORPHA:98850
Atelosteogenesis Type Iii	Short tibia, Polyhydramnios, Short tubular bones of the hand, Patellar dislocation, Vertebral hyp...	ORPHA:56305
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o...	OMIM:119100
Immunodeficiency 70	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells	OMIM:618969
Wilson Disease	Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepa...	ORPHA:905
Bent Bone Dysplasia Syndrome 2	Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Elevated hepatic transaminase, Lissencephaly, Giant cell hepatitis, Hepatomegaly, Chole...	OMIM:613404
Combined Oxidative Phosphorylation Deficiency 34	Vomiting, Hepatic steatosis, Increased blood urea nitrogen, Hepatomegaly, Elevated circulating cr...	OMIM:617872
Nephronophthisis 2	Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Hypertens...	OMIM:602088
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Glomerulonephritis, Gastritis, Bone marrow hypocellularity, Hepatomegal...	ORPHA:3261
Timothy Syndrome	Patent ductus arteriosus, Bronchitis, Prolonged QT interval, Hypocalcemia, Pneumonia, Bradycardia	OMIM:601005
Burkitt Lymphoma	Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells	ORPHA:543
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r...	ORPHA:35078
Omenn Syndrome	Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Eosinophilia, Splenomegaly, Ab...	ORPHA:39041
Rift Valley Fever	Retinal hemorrhage, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Uveitis, Incre...	ORPHA:319251
Hemorrhagic Fever-Renal Syndrome	Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitation...	ORPHA:340
Alopecia-Intellectual Disability Syndrome	Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair	ORPHA:2850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Episodic tachy...	ORPHA:26793
Fibrodysplasia Ossificans Progressiva	Alopecia, Anemia	ORPHA:337
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc...	OMIM:233690
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hepatitis, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Ch...	OMIM:194380
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch...	ORPHA:209902
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Short phalanx of finger, Hip subluxation, Tibial deviation of toes, Short 5th finger...	OMIM:268305
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress	OMIM:254120
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Reduced sperm motility, Reduced forced vital capacity, Recurrent otitis media, Re...	OMIM:619436
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dysplasia, Nail dystrophy	ORPHA:79397
Satoyoshi Syndrome	Genu varum, Abnormality of the knee, Abnormality of the ovary, Abnormality of the wrist, Alopecia...	ORPHA:3130
Laurin-Sandrow Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication...	ORPHA:2378
Infant Acute Respiratory Distress Syndrome	Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem...	ORPHA:70587
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Knee flexion contracture, Arthritis, Elbow flexion contracture, Cystic acne, Colitis, Acne, Steri...	OMIM:604416
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Alopecia totalis	OMIM:212360
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Transcobalamin Deficiency	Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia	ORPHA:859
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Recurrent respiratory infections	ORPHA:363523
Metaphyseal Acroscyphodysplasia	Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal...	OMIM:250215
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Recurrent infections, Dilated cardiomyopathy, Arrhythmia	ORPHA:352447
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast...	OMIM:608940
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i...	ORPHA:79126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Chronic bronchitis, Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circula...	OMIM:242860
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,...	OMIM:610913
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti...	ORPHA:449395
Igg4-Related Retroperitoneal Fibrosis	Large vessel vasculitis, Psoriasiform dermatitis, Acute kidney injury, Deep dermal perivascular i...	ORPHA:49041
Mesomelic Dysplasia, Savarirayan Type	Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili...	ORPHA:85170
Cryptococcosis	Cirrhosis, Vomiting, Osteomyelitis, Prostatitis, Lymphoid leukemia, Neoplasm, Peritonitis, Pneumonia	ORPHA:1546
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin...	ORPHA:168563
Nocardiosis	Endocarditis, Lymphadenitis, Conjunctivitis, Vomiting, Osteomyelitis, Scleritis, Liver abscess, T...

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