Not currently registered for phenotyping at IMPC

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

Gene Summary

CD44 antigen
Pgp-1,  HERMES,  Ly-24

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... 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 CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
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, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Nail dystrophy, 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, Patchy alopecia, Alopecia totalis, Alopecia universalis 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 circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis 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 scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils ORPHA:111
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Ag... OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infect... OMIM:300635
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reac... OMIM:308240
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... ORPHA:169154
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
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 CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent sinus... OMIM:615707
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia, Reduced natural killer cell activity OMIM:608898
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615559
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... OMIM:619281
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome... ORPHA:169160
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Autoinflammation With Infantile Enterocolitis
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... OMIM:616050
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Decreased circulating IgG level, Hepatomegaly, Impaired memory B cell ... OMIM:308230
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
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
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia OMIM:301080
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... ORPHA:542323
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... ORPHA:567544
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... ORPHA:540
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Endove Syndrome, Limb-Only Type
Neonatal sepsis, Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate sho... OMIM:619217
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Increased circulating IgE level,... ORPHA:1163
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... OMIM:615513
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... ORPHA:2619
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
L-Ferritin Deficiency
Alopecia OMIM:615604
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative... OMIM:617638
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology ORPHA:542592
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Secretory diarrhea, Bloody diarrhea, V... ORPHA:544482
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly OMIM:300484
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans OMIM:154800
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... ORPHA:810
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Legionnaires Disease
Hyponatremia, Pericarditis, Ataxia, Abnormal pleura morphology, Myocarditis, Abnormal lung morpho... ORPHA:549
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Increased mitochondrial number, Decreased activity of mitochond... OMIM:619063
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Acute Lung Injury
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated... ORPHA:178320
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Sinusitis, Skin rash, Acute otitis media, Lack of T cell functi... ORPHA:572
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C... OMIM:613490
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis OMIM:260570
Primary Peritoneal Carcinoma
Peritonitis, Neoplasm, Constipation ORPHA:168829
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Congenital Atransferrinemia
Arthritis ORPHA:1195
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... ORPHA:186
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... ORPHA:47
Congenital Disorder Of Glycosylation, Type Iih
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating creat... OMIM:611182
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula... ORPHA:90117
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... ORPHA:397596
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Diarrhea, Elevated circulating creatini... ORPHA:90038
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,... OMIM:617744
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun... OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, B... OMIM:620282
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali... OMIM:201170
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Necrotizing Enterocolitis
Hyponatremia, Shock, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Bradycardia, Hypotension ORPHA:391673
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Ataxi... OMIM:603553
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car... ORPHA:314473
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Splenomegaly, Anemia, Neutropenia OMIM:602079
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... OMIM:601859
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Peritoneal Cystic Mesothelioma
Peritonitis, Neoplasm, Constipation ORPHA:168816
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Sp... ORPHA:342
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... ORPHA:98848
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Malignant Peritoneal Mesothelioma
Peritonitis, Neoplasm, Ileus ORPHA:168811
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl... OMIM:209950
Griscelli Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level, Bo... ORPHA:381
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Splenomegaly, Recurrent otitis media, Hepatitis ORPHA:444463
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Immunodeficiency 62
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:618459
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... ORPHA:277
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... ORPHA:217390
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Classic Mycosis Fungoides
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail ORPHA:2584
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiad... OMIM:238970
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Autoimmunity OMIM:131430
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Diarrhea, Hematuria, Decreased serum cre... ORPHA:54057
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T... ORPHA:264675
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia ORPHA:337
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Absenc... ORPHA:79106
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Urachal Cyst
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Peritonitis, Urachus fist... ORPHA:488
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Vomiting, Abnormality... ORPHA:2552
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Recurrent upper respiratory tract infections, De... OMIM:193670
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Hem... ORPHA:228119
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Nephritis, Nausea, Infectiou... ORPHA:73263
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Fibrosarcoma, Peritonitis, Ovarian fibroma ORPHA:314478
Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, Nausea, Pyelonep... ORPHA:533
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Increased circulating IgG level, Increased circulating ... OMIM:619220
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, Periodontitis... ORPHA:2686
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, C... ORPHA:37042
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase co... OMIM:614921
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious encephalit... OMIM:300755
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Polyhydramnios, Edema, Recurrent upper respir... OMIM:607143
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Recur... ORPHA:436159
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increa... ORPHA:3392
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Splenomeg... ORPHA:131
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopa... ORPHA:292
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Vomiti... OMIM:619991
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Increased circulating inosine concentration, Sinusitis, Hypouricemia, Impair... OMIM:613179
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, E... OMIM:619351
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Anemia ORPHA:100025
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Mel... ORPHA:319218
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Microcephaly-Micromelia Syndrome
Micromelia, Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis,... OMIM:251230
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... ORPHA:48435
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti... OMIM:301082
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Pachygyria, Polymicrogyria, Aspiration pneumonia OMIM:609528
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Abnormality of iron homeostasis... ORPHA:848
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... ORPHA:171
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Graft Versus Host Disease
Elevated hepatic transaminase, Myositis, Tachycardia, Fasciitis, Maculopapular exanthema, Pneumon... ORPHA:39812
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... ORPHA:679
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... ORPHA:101330
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough... ORPHA:60033
Immunodeficiency 52
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Chronic ... OMIM:617514
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, No... ORPHA:36238
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Osteopenia, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metatarsus adductus, Abnormal ... ORPHA:356961
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Eosinop... OMIM:243700
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A... ORPHA:31202
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Hepatomegaly, Portal hypertension, Reduced forced expiratory vo... OMIM:613385
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Complete Androgen Insensitivity Syndrome
Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing h... ORPHA:99429
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia OMIM:258865
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplasia/Hypoplasia ... ORPHA:2930
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat... ORPHA:420741
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir... OMIM:618282
Mullerian Aplasia And Hyperandrogenism
Acne, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia ... OMIM:158330
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard... ORPHA:139402
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Alopecia, Increased mean platelet volume OMIM:617443
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Sclerosing cholangitis, Abnormal B cell prol... OMIM:619652
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... ORPHA:97244
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Macrocytic anemia,... OMIM:615578
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... OMIM:610163
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... OMIM:127550
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma OMIM:304790
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Thrombocytopenia, Sp... OMIM:214500
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circul... OMIM:615846
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... ORPHA:83471
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona... OMIM:612964
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Wiskott-Aldrich Syndrome
Epistaxis, Eczema, Increased circulating IgA level, Hematemesis, Reduced natural killer cell acti... OMIM:301000
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Recurrent upper ... OMIM:616100
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Bronchitis, Colitis, Hypoalbuminemia, Pust... OMIM:619381
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculi... ORPHA:1572
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia... ORPHA:276
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased c... OMIM:618394
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Polyhydramnios, Abnormality of the humerus, ... ORPHA:56305
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper respiratory t... OMIM:619752
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Sézary Syndrome
Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Nail dystrophy ORPHA:3162
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... ORPHA:85450
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Agammaglobulinemia, Decr... OMIM:619705
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Psoriasiform dermatitis, Enterocolitis, Decreased circulating a... OMIM:243150
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... ORPHA:85410
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Increased circulating IgE level, Bronchiecta... OMIM:618523
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism OMIM:300510
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233710
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... ORPHA:39041
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Vomiting, Increased blood urea nitro... OMIM:617872
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Hepatomegaly,... ORPHA:3261
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In... ORPHA:340
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233690
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Decreased mitochondrial number, Recurrent infections ORPHA:352447
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... OMIM:194380
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, H... ORPHA:26793
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Satoyoshi Syndrome
Abnormality of the knee, Abnormal hair morphology, Abnormal joint morphology, Hypoplasia of the u... ORPHA:3130
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Retinal hemorrhage, Uveitis, Hep... ORPHA:319251
Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Neoplasm, Vomiting, Cirrhosis, Prostatitis ORPHA:1546
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,... OMIM:604416
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Chorea, Tubulointerstitial n... ORPHA:289390
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid... ORPHA:49041
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Vertical Talus, Congenital
Arthritis OMIM:192950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea... OMIM:242860
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... OMIM:613990
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thy... ORPHA:31204
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... ORPHA:730
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia