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
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
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
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
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
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
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
Abnormality of the bladder, Pericarditis, Panniculitis, Pneumonia, Osteomyelitis, Abnormality of ... ORPHA:228123
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
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
Maculopapular exanthema, Osteomyelitis, Abnormality of the liver, Bronchiectasis, Abnormality of ... ORPHA:228119
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
Septic arthritis, Diarrhea, Pericarditis, Pneumonia, Splenic abscess, Endocarditis, Osteomyelitis... ORPHA:533
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
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
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
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
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
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
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
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
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
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
Endocarditis, Lymphadenitis, Conjunctivitis, Vomiting, Osteomyelitis, Scleritis, Liver abscess, T...