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Gene: Ptpn6 MGI:96055

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 6
Synonyms:
hcp,  SHP-1,  Hcph,  Ptp1C

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptpn6 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 Ptpn6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ... OMIM:614470
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... OMIM:610163
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A... ORPHA:397596
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 27A
Pneumonia, Diarrhea, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatosplenomega... OMIM:209950
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Hypopituitarism, Increased circulating IgE level, Recurrent ... ORPHA:98813
Papular Xanthoma
Histiocytosis ORPHA:158008
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Impaired T... OMIM:240500
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent candida infections, Abnorma... OMIM:269840
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Recurrent upper respiratory tract infections, Eczematoid dermatitis, He... OMIM:615952
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Inflammatory abnor... ORPHA:277
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i... ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... OMIM:617241
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:324964
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Erythema, Rheumatoid factor positive, Lymphopenia, Leukopenia, Follicular hyperplasi... OMIM:615934
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia, Clubbing, Clubbing of fingers OMIM:162700
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon... ORPHA:723
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Respi... ORPHA:444463
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612783
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... ORPHA:829
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit... OMIM:300853
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation OMIM:615674
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Mo... OMIM:616871
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Abnormality of neutrophils, Diarrhea, Abnormal lymphocyte morphology, Autoimmu... ORPHA:229717
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l... ORPHA:436159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi... OMIM:601457
Classic Mycosis Fungoides
Erythema, Alopecia, Irregular hyperpigmentation, Skin ulcer, Hypopigmented skin patches, Eczemato... ORPHA:2584
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Protracted diarrhea,... ORPHA:331206
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Increased ... ORPHA:48104
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Impaired Intellectual Development And Psoriasis
Psoriasiform dermatitis OMIM:309480
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level ORPHA:37748
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal ly... ORPHA:60026
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Vitiligo, Decreased circulating I... ORPHA:275
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Immunodeficiency 32B
Pneumonia, Neutrophilia, Recurrent infections, Impaired oxidative burst, Abnormal circulating IgG... OMIM:226990
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Muco... OMIM:615767
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, System... ORPHA:90280
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... ORPHA:217390
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... ORPHA:922
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype... ORPHA:241
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Antinuclear antibody posi... OMIM:617388
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... OMIM:619802
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis OMIM:254400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutro... ORPHA:231154
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Prolidase Deficiency
Erythema, Skin ulcer, Abnormal fingernail morphology, Dry skin, Genu valgum, White forelock, Abno... ORPHA:742
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Subcutaneous nodule, Skin detachment, Granul... ORPHA:228119
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Skin ulcer, Dermal atrophy, L... ORPHA:454831
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane... OMIM:615816
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Molluscum contagiosum... OMIM:243700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Recurrent viral infections, Diarrhea, Increased circulating... OMIM:102700
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Increased circulating IgE level... OMIM:620565
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal optic nerve morp... ORPHA:33445
C1Q Deficiency 2
Discoid lupus rash, Sepsis, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm ... OMIM:620321
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent infections, Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatit... OMIM:300635
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular v... OMIM:127550
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Diarrhea, Pr... ORPHA:572
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Alopecia, Skin ulcer, Hypopigmented skin patches, ... ORPHA:47
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Primary Sjögren Syndrome
Arteritis, Dry skin, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper ... ORPHA:289390
Osteoporosis
Osteoporosis OMIM:166710
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Joint swelling, Panniculitis, Skin rash, Increased proportion of CD4-positive T cel... OMIM:617099
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit... OMIM:607624
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Cerebellar atrophy, Skin ulcer, Cerebral atro... OMIM:620603
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Leukopenia, Skin rash, Anemia, Recurrent respiratory infe... ORPHA:33355
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Necrobiosis Lipoidica
Erythema, Indurated nodule, Inflammatory abnormality of the skin, Granuloma, Skin ulcer, Skin nod... ORPHA:542592
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Mhc Class I Deficiency 1
Bronchiolitis, Skin ulcer, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis med... OMIM:604571
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Congenital Factor Xii Deficiency
Retinal arteriolar occlusion, Retinal vein occlusion, Penetrating foot ulcers ORPHA:330
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos... ORPHA:139402
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer ORPHA:2337
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Antiphospholipid antibody positivity, Iridoc... ORPHA:227982
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, Aplasia cutis congenita, Skin ulcer ORPHA:1117
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... OMIM:620632
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Abnormal pulmonary interstitial morphology, ... OMIM:619644
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Decreased response to growth hormone stimulation test, Lymphocytic intersti... OMIM:245590
Boutonneuse Fever
Diarrhea, Abnormal skin morphology of the palm, Cervical lymphadenopathy, Leukopenia, Skin rash, ... ORPHA:83313
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Alopecia, Decreased circulating antibody level, Autoimmu... OMIM:616576
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Decreased ... OMIM:616834
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Recurrent viral infections, Periodontitis, Aplasti... ORPHA:486
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... OMIM:301078
Subcorneal Pustular Dermatosis
Erythema, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating... ORPHA:48377
Iga Pemphigus
Cutaneous abscess, Skin vesicle, Eosinophilia, Increased circulating IgA level, Monoclonal elevat... ORPHA:555905
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Abnormal natu... OMIM:613101
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Neonatal Alloimmune Neutropenia
Pneumonia, Antineutrophil antibody positivity, Sepsis, Neutropenia in presence of anti-neutropil ... ORPHA:464370
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... OMIM:300755
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Retinopathy, Aplasia/Hypoplasia of the skin, Abnormality of skin pigmentation, Purpur... ORPHA:743
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopenia, Tiger tail banding, Abdominal adhesi... OMIM:616395
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Skin rash, Auto... ORPHA:100026
Dracunculiasis
Limitation of joint mobility, Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Flexion cont... ORPHA:231
Leishmaniasis
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Incre... ORPHA:507
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Takayasu Arteritis
Skin ulcer, Retinopathy, Increased inflammatory response, Anemia, Arthritis, Inflammatory abnorma... ORPHA:3287
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Lymphadenopathy, Dyspnea, Abn... ORPHA:50251
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Increased circulating IgE level,... OMIM:618523
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Immunodeficiency 46
Sepsis, Intermittent thrombocytopenia, Chronic diarrhea, Recurrent sinopulmonary infections, Neut... OMIM:616740
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Omenn Syndrome
Pneumonia, Recurrent viral infections, Diarrhea, Splenomegaly, Recurrent bacterial infections, Hy... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Decreas... ORPHA:35078
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Aplasia of the thymus, Chronic otitis media, Decreased lymphocyte proliferation in resp... ORPHA:83471
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Psoriasis 14, Pustular
Psoriasiform dermatitis, Pustule, Oligoarthritis, Elevated circulating C-reactive protein concent... OMIM:614204
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Chronic ... OMIM:242860
Zika Virus Disease
Myelitis, Pruritus, Skin rash, Maculopapular exanthema, Infectious encephalitis, Thrombocytopenia... ORPHA:448237
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Intraalveolar phospholipid accumulation, Spo... OMIM:610913
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... OMIM:606367
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy... OMIM:131960
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Coarse hair, Leukopenia, Long eyelashes, Spleno... OMIM:617303
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemol... OMIM:615387
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Au... ORPHA:411593
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abscess, Granuloma, Eczematoid dermatitis, Pleura... OMIM:618935
Omenn Syndrome
Pneumonia, Sepsis, Short toe, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenom... ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory... OMIM:613179
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE... OMIM:620532
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail OMIM:302000
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi... OMIM:203100
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract... OMIM:615758
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Pallor, Abnormal retinal morphology, Albinism, Osteoporosis, Hypopi... ORPHA:2786
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ... ORPHA:133
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch... OMIM:614868
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema ORPHA:345
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Lymphadenopathy, Arthrit... ORPHA:85414
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Panhypogammaglobuli... OMIM:307200
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, De... OMIM:613011
Alopecia Universalis
Atopic dermatitis, Psoriasiform dermatitis, Abnormal circulating lipid concentration ORPHA:701
Anonychia With Flexural Pigmentation
Dry skin, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema, Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increase... OMIM:300291
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Leukopenia, Subluxation of the small joints o... ORPHA:206572
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, ... ORPHA:169090
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Autoimmune Hepatitis
Antineutrophil antibody positivity, Viral hepatitis, Increased circulating IgG level, Ascites, Vi... ORPHA:2137
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Sea-blue histiocytosis, Retinopathy, Petechiae, Splenomegaly, Hyper... ORPHA:158029
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Eczematoid dermatitis, Skin ulcer, Atelectasis, Abnormal hair morphology, Osteomyelit... ORPHA:2314
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Petechiae, ... OMIM:620296
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... ORPHA:85410
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Incontinentia Pigmenti
Erythema, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal to... ORPHA:464
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... ORPHA:189
Bullous Pemphigoid
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis ORPHA:703
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Skin ulcer, Acral ulceration, Abno... ORPHA:139578
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus a... OMIM:615688
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Papa Syndrome
Limitation of joint mobility, Skin ulcer, Crohn's disease, Increased inflammatory response, Myosi... ORPHA:69126
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Splenomegaly, Abnormal pattern of respira... ORPHA:77260
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo... ORPHA:1855
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Livedoid Vasculopathy
Hyperpigmented streaks, Abnormality of complement system, Erythematous papule, Skin ulcer, Polycy... ORPHA:542643
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Systemic lupus erythematosus, Facial hirs... OMIM:170100
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:615577
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczematoid dermatitis OMIM:617443
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent... OMIM:615468
Psoriasis 2
Psoriasiform dermatitis OMIM:602723
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Wiskott-Aldrich Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hypersensitivity skin... OMIM:301000
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Metaphyseal striations, Decreased circulating total... OMIM:615139
Sézary Syndrome
Alopecia, Irregular hyperpigmentation, Dry skin, Abnormal pleura morphology, Abnormal lymphocyte ... ORPHA:3162
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Flynn-Aird Syndrome
Cerebral cortical atrophy, Alopecia, Skin ulcer, Dermal atrophy, Joint stiffness, Rod-cone dystrophy ORPHA:2047
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia, Edema, Pedal edema OMIM:152800
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Chilblain Lupus 1
Abnormality of the nail, Chilblains, Antinuclear antibody positivity, Skin ulcer OMIM:610448
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive,... ORPHA:79099
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Hyperpigmentation o... OMIM:104100
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Recurrent meningococcal disea... OMIM:615561
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Hypopigmentation of the skin, Nevus, Dystrophic toenail, Abnormal fingernail morpho... ORPHA:89838
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... ORPHA:562639
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... ORPHA:70589
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Skin ulcer, Microangiopathic hemolytic anemia, Systemic ... ORPHA:464343
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono... OMIM:300299
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Autoimmunity, Sk... ORPHA:79128
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Skin ulcer, Elevated bronchoalveolar lavage fluid neutrop... OMIM:608710
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Sacroiliac... ORPHA:85436
Acrogeria
Irregular hyperpigmentation, Skin ulcer, Fine hair, Excessive wrinkled skin, Joint hypermobility,... ORPHA:2500
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal hair morphology, Joint stiffness, Aplasia/Hypoplasia of the skin, Progressiv... ORPHA:2028
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Alopecia, Biliary cirrhosis, ... ORPHA:2298
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnorm... OMIM:614171
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomega... OMIM:618963
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... ORPHA:284227
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat... OMIM:615508
Pemphigus Foliaceus
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus ORPHA:79481
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... ORPHA:60033
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Uv-Sensitive Syndrome 1
Dry skin, Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Microscopic Polyangiitis
Erythema, Uveitis, Skin ulcer, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory resp... ORPHA:727
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia ORPHA:100025
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Werner Syndrome
Abnormal hair whorl, Sparse scalp hair, Chondrocalcinosis, Skin ulcer, Premature graying of hair,... ORPHA:902
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Increased circulating IgE level, Recurrent bronchiolitis, Pustule, Polyhydra... OMIM:616069
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Autoimmunity, Portal hypertension, Splen... ORPHA:186
Slc35A1-Cdg
Pneumonia, Giant platelets, Respiratory distress, Pulmonary hemorrhage, Abnormal platelet granule... ORPHA:238459
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Bronchiectasis ORPHA:411703
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Lichen Planopilaris
Alopecia, Skin ulcer, Hypopigmented skin patches, Abnormal fingernail morphology, Onycholysis ORPHA:525
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Panacinar emphysema, Dyspnea, Bronchiectasis OMIM:613490
Blau Syndrome
Erythema, Limitation of joint mobility, Dry skin, Abnormal cranial nerve morphology, Abnormal cho... ORPHA:90340
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps... ORPHA:51636
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Hepatomegaly, Purpura ORPHA:343
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Diarrhea, Osteomyelitis, Skin rash, Agam... ORPHA:33110
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... OMIM:612840
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Finger swelling, Lymphopenia, Skin rash, Splenomegaly, Increased circulatin... OMIM:617591
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Skin ulcer, Hypopigmented skin patches, Au... ORPHA:220402
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Common Variable Immunodeficiency
Pneumonia, Recurrent respiratory infections, Emphysema, Lymphopenia, Abnormality of the liver, Re... ORPHA:1572
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal hair morphology, Dry skin, Abnormal toenail morphology, Retinal detachment, Chorioretina... ORPHA:2526
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti-glutamic acid decarboxyla... OMIM:304790
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Decreased circulating IgA level OMIM:137100
Kid Syndrome
Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Psoriasiform dermatitis, Delayed pu... ORPHA:477
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hypopigmented skin patches,... ORPHA:381
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Spleno... OMIM:612541
Darier Disease
Abnormal hair morphology, Subungual hyperkeratotic fragments, Skin vesicle, Abnormality of skin p... ORPHA:218
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the female genitalia, Eryth... ORPHA:228123
Melioidosis
Pneumonia, Sepsis, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Ab... ORPHA:31202
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Decreased circulating antibody level ORPHA:2572
Igg4-Related Submandibular Gland Disease
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circu... ORPHA:449432
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Brooke-Spiegler Syndrome
Skin ulcer, Skin appendage neoplasm, Skin-colored papule, Abnormality of the submandibular glands... ORPHA:79493
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Skin rash OMIM:619175
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Arthritis, Dyspnea, ... OMIM:616414
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Multiple Myeloma
Pleural effusion, Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increas... ORPHA:29073
Hereditary Sensory And Autonomic Neuropathy Type 1
Decreased amplitude of sensory action potentials, Skin ulcer, Penetrating foot ulcers, Pathologic... ORPHA:36386
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze... OMIM:306400
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Angioedema, Hypernatre... OMIM:256500
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Uv-Sensitive Syndrome 3
Dry skin, Freckling OMIM:614640
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Pleural effusion, ... ORPHA:2902
Drug-Induced Localized Lipodystrophy
Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia ORPHA:140896
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Scapular winging, Aspiration pneumonia OMIM:619477
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation OMIM:601706
Good Syndrome
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurren... ORPHA:169105
Adult Syndrome
Alopecia, Absent nipple, Toenail dysplasia, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic... ORPHA:978
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus eryth... ORPHA:49041
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Candidiasis, Familial, 1
Cutaneous anergy, Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Tietz Albinism-Deafness Syndrome
Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Blue irides... OMIM:103500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased circulating total IgG, Psoriasiform dermatitis, Decreased specific antibody... ORPHA:221139
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
Mercury Poisoning
Hypokalemia, Interstitial pneumonitis ORPHA:330021
Lassa Fever
Facial edema, Conjunctivitis, Increased circulating IgM level, Menometrorrhagia ORPHA:99824
Free Sialic Acid Storage Disease
Iris hypopigmentation, Skin ulcer, Splenomegaly, Abnormality of skin pigmentation, Recurrent resp... ORPHA:834
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails ORPHA:700
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm... ORPHA:79402
Peeling Skin Syndrome 1
Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Scaling skin, Brittle... OMIM:270300
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, Nevus, White hair, Ocular albinism, Abnormal... ORPHA:79435
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Leukopenia, Leukocytosis, Pleural effusion, Tachypnea, Pneumotho... ORPHA:36238
Dyskeratosis Congenita
Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Sparse hair, Al... ORPHA:1775
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis, Pulmonary venous occlu... OMIM:234810
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer, Generalized hypopigmentation, Ocular albinism ORPHA:352723
Succinic Acidemia
Respiratory distress OMIM:600335
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Abnormal hemoglobin, Splenomega... ORPHA:848
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Chronic Granulomatous Disease
Abnormality of neutrophils, Skin ulcer, Eczematoid dermatitis, Otitis media, Splenomegaly, Macule... ORPHA:379
Ramon Syndrome
Juvenile rheumatoid arthritis, Optic disc pallor, Pigmentary retinopathy, Hypertrichosis OMIM:266270
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Familial Multiple Nevi Flammei
Irregular hyperpigmentation, Skin ulcer, Hypermelanotic macule, Nevus flammeus, Abnormal cranial ... ORPHA:624
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Erythematous p... ORPHA:3243
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Dry skin, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Scaling s... OMIM:618373
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hypertrichosis, Leukopenia, Hepatos... ORPHA:505248
Dermatoosteolysis, Kirghizian Type
Keratitis, Skin ulcer, Dystrophic toenail, Osteolysis, Abnormality of the wrist, Aplasia/Hypoplas... ORPHA:1657
Ciliary Dyskinesia, Primary, 29
Atelectasis, Infertility, Recurrent respiratory infections, Decreased circulating antibody level,... OMIM:615872
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Recurrent upper respiratory tract infections, Increased circulating interleukin 8 conce... OMIM:256040
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Cherry red spot of the macula, Periarticular subcutaneous... OMIM:228000
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Petechiae, Increased circulating... OMIM:313900
Hyperzincemia With Functional Zinc Depletion
Osteoporosis, Increased serum zinc, Skin rash OMIM:601979
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Ollier Disease
Skin ulcer, Joint stiffness, Anemia, Subcutaneous nodule, Osteolysis ORPHA:296
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Giant Cell Arteritis
Optic atrophy, Alopecia, Skin ulcer, Abnormal pleura morphology, Joint stiffness, Arthritis, Recu... ORPHA:397
H Syndrome
Osteolysis, Recurrent fractures, Psoriasiform dermatitis, Chronic rhinitis, Hypertriglyceridemia,... ORPHA:168569
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Exertional dyspnea, Honeycomb ... ORPHA:2032
Blau Syndrome
Flexion contracture of toe, Uveitis, Nongranulomatous uveitis, Skin ulcer, Eczematoid dermatitis,... OMIM:186580
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A... ORPHA:79078
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Erythema migrans, Skin vesicle, Generalized reticulate brown pigmentati... ORPHA:158681
Cryoglobulinemic Vasculitis
Mediastinal lymphadenopathy, Skin ulcer, Petechiae, Splenomegaly, Cryoglobulinemia, Keratoconjunc... ORPHA:91138
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Neurodegeneration, Abnormal dense granules, Neutropenia, Giant m... OMIM:214500
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Anti-granulocyte-macrophage co... OMIM:610910
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia ORPHA:264675
Vici Syndrome
Optic atrophy, Decreased circulating IgG level, Hypopigmentation of the skin, Cerebral cortical a... ORPHA:1493
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Retinal detachment, Arthritis, Anemia, Purpura ORPHA:375
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair ORPHA:1573
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Hippocampal atrophy, Recurrent o... ORPHA:353298
Ghosal Hematodiaphyseal Dysplasia
Abnormal tibia morphology, Abnormal femur morphology, Splenomegaly, Bowing of the long bones, Dia... ORPHA:1802
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Generalized hirsutism, Lymphocytosis, Decreased circulating comp... ORPHA:79087
Granulomatosis With Polyangiitis
Skin ulcer, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Pleuritis, Autoimmunity, Ret... ORPHA:900
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Chronic bronch... OMIM:615482
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto... OMIM:618985
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Night Blindness, Congenital Stationary, Type 1C
Dry skin, Abnormality of skin pigmentation OMIM:613216
Immunodeficiency 56
Recurrent infections, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recu... OMIM:615207
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Limited elb... ORPHA:39812
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Partial agenesis of the corpus callosum, Abnormal myelination, Agenesis of corpus call... ORPHA:85179
Bloom Syndrome
Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, A... ORPHA:125
Cushing Disease
Acne, Skin ulcer, Striae distensae, Lymphopenia, Optic nerve compression, Leukocytosis, Adrenal h... ORPHA:96253
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Babesiosis
Leukopenia, Splenomegaly, Clinodactyly of the 5th toe, Hyperhidrosis, Thrombocytopenia, Recurrent... ORPHA:108
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Myeloma, Multiple
Paraproteinemia OMIM:254500
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Intractable diarrhea, Sandal gap, Recurrent otitis media, Recurrent ... OMIM:617475
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Severe B lymphocytopenia, Recu... ORPHA:293978
X-Linked Immunoneurologic Disorder
Abnormal pleura morphology, Decreased circulating IgG2 level, Recurrent respiratory infections ORPHA:2571
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches, Macule ORPHA:2435
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Papilledema, Lymp... OMIM:607115
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells ORPHA:477814
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul... OMIM:616050
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Pleural effusion, Splenomegaly, Pallo... ORPHA:33226
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... OMIM:615504
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Otitis media, Sinusitis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Infantile Myofibromatosis
Irregular hyperpigmentation, Limitation of joint mobility, Skin ulcer, Chondrocalcinosis, Osteoly... ORPHA:2591
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea ORPHA:517
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... OMIM:620184
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Short toe, Recurrent otitis media, Irregular femoral ... OMIM:616651
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ... ORPHA:79153
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Recurrent pneumonia, Proximal femoral metaphyseal irregularity, Splenomegaly, Coxa va... OMIM:602271
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Self-Improving Dystrophic Epidermolysis Bullosa
Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region ORPHA:79411
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Sepsis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia, Incr... ORPHA:319218
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Hip osteoarthritis, Rhegmatogenous retinal detachment OMIM:619248
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunoglobulin A Vasculitis
Optic atrophy, Erythema, Skin ulcer, Episcleritis, Skin rash, Infectious encephalitis, Pustule, O... ORPHA:761
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Palmoplantar keratoderma, Aspiration pneumonia OMIM:609528
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash... OMIM:129500
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cholelithiasis, Cherry red spot of the macula, Systemic lupus erythematosus, Patholog... ORPHA:77293
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosplenomegaly, Decr... OMIM:608233
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Agammaglobulinemia, Enterocolitis, Decreased circul... OMIM:243150
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hype... OMIM:619381
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody ... ORPHA:221
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Decreased circulating complement C3 concentration, Autoimmuni... ORPHA:90060
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypersensiti... ORPHA:79127
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody posit... OMIM:620376
Immunodeficiency 54
Reduced natural killer cell count, Recurrent viral infections, Adrenal insufficiency, Splenomegal... OMIM:609981
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Exertional dyspnea, Recurre... ORPHA:3348
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Lymphopenia, Polycystic ovaries, Mul... ORPHA:100
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panni... ORPHA:86884
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom... ORPHA:42642
Cyclic Neutropenia
Sepsis, Periodontitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutr... ORPHA:2686
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Abnormal ... ORPHA:53
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Anaplastic Thyroid Carcinoma
Dyspnea, Goiter, Respiratory distress, Lymphadenopathy, Nodular goiter, Neoplasm of the lung ORPHA:142
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Abnormal hair morphology, Lymp... OMIM:208900
Dominant Beta-Thalassemia
Skin ulcer, Extramedullary hematopoiesis, Reduced hemoglobin A, Persistence of hemoglobin F, Hypo... ORPHA:231226
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Increased... ORPHA:822
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Ret... ORPHA:3437
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Rift Valley Fever
Macular edema, Hepatitis, Skin rash, Infectious encephalitis, Thrombocytopenia, Anemia, Increased... ORPHA:319251
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy ORPHA:79476
Mogs-Cdg
Decreased circulating IgG level, Alopecia, Fair hair, Hepatosplenomegaly, Decreased circulating I... ORPHA:79330
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Seborrheic dermatitis, Periostosis, Acne OMIM:614441
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Decreased motor nerve conduction velocity, Skin ulcer OMIM:613640
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Recurr... OMIM:216950
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil c... ORPHA:811
Lig4 Syndrome
Psoriasiform dermatitis, Chronic sinusitis OMIM:606593
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Congenital Analbuminemia
Facial edema, Hypoalbuminemia, Oligohydramnios, Hyperlipidemia, Increased alpha-globulin, Increas... ORPHA:86816
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality... ORPHA:540
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Perching Syndrome
Respiratory distress OMIM:617055
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypopigmentation ... ORPHA:167
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, Sp... ORPHA:400
Acrodermatitis Enteropathica
Erythema, Abnormality of the nail, Alopecia, Ridged fingernail, Skin ulcer, Cerebral cortical atr... ORPHA:37
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Emphysema, Increased circulating IgE leve... ORPHA:634
Familial Melanoma
Abnormal hair morphology, Dry skin, Freckling ORPHA:618
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Immunodeficiency 58
Allergic rhinitis, Esophagitis, Dysphagia, Recurrent cutaneous abscess formation, Chronic otitis ... OMIM:618131
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the skin, Chronic mucocuta... OMIM:242840
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Myositis, Perito... ORPHA:36234
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Atypical Werner Syndrome
Limitation of joint mobility, Premature graying of hair, Abnormal hair morphology, Sparse body ha... ORPHA:79474
Immunodeficiency 77
Gastroparesis, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Polyarteritis Nodosa
Erythema, Skin ulcer, Abnormal lung morphology, Subcutaneous nodule, Pleuritis, Pericarditis ORPHA:767
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 49
Psoriasiform dermatitis OMIM:617237
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Neonatal Inflammatory Skin And Bowel Disease
Blepharitis, Chapped lip, Psoriasiform dermatitis, Pustule, Recurrent bacterial skin infections ORPHA:294023
Beta-Thalassemia Intermedia
Osteopenia, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231222
Systemic Sclerosis
Digital ulcer, Glomerulonephritis, Digital pitting scar, Recurrent skin infections, Anti-RNA-poly... ORPHA:90291
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Lymphadenopathy, Dyspnea ORPHA:97285
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Immunodeficiency 31C
Recurrent infections, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Decreas... OMIM:614162
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Alopecia, Decreased testicular size, Decreased circulating IgA l... OMIM:620040
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Hypopigmentation o... OMIM:210900
Infantile Sialic Acid Storage Disease
Osteopenia, Hypopigmentation of the skin, Fair hair, Cerebral atrophy, Splenomegaly, Vacuolated l... OMIM:269920
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve... ORPHA:449563
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia, Prominent fingertip pads, Splenomegaly, Hepatomegaly, Clinodactyly of the 5t... OMIM:615637
Mirage Syndrome
Sepsis, Gastroesophageal reflux, Rocker bottom foot, Aspiration pneumonia, Recurrent urinary trac... OMIM:617053
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Postinfectious Vasculitis
Pneumonia, Abnormality of humoral immunity, Palpable purpura, Increased circulating antibody leve... ORPHA:48435
Chromosome 15Q11.2 Deletion Syndrome
Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture OMIM:615656
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abnormality of... ORPHA:1806
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Acral ulceration, D... OMIM:162400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis OMIM:618398
Acquired Purpura Fulminans
Macular purpura, Skin rash, Macule, Thrombocytopenia, Pyoderma gangrenosum, Erythematous macule ORPHA:49566
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Epididymitis, Diffuse alveolar h... ORPHA:99827
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Chronic rhinitis, Hypothyroidism, Bronchiectasis OMIM:617577
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia, Pruritus, Hemolytic anemia, Edema OMIM:177000
Phenylketonuria
Osteopenia, Hypopigmentation of the skin, Eczematoid dermatitis ORPHA:716
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocal... ORPHA:64744
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczematoid dermatitis, Thrombocytopenia OMIM:619751
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Decreased circulating ... OMIM:613385
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Idiopathic Non-Lupus Full-House Nephropathy
Reduced circulating complement concentration, Elevated circulating creatinine concentration, Skin... ORPHA:567544
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Tachypnea, Hyperventilation, Mediastinal lymphaden... ORPHA:91359
Nipah Virus Disease
Respiratory distress, Infectious encephalitis, Recurrent pharyngitis ORPHA:99825
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Alopecia, Skin ulcer, Abnormal fingernail morphology, Skin fissure, Ankylosis, Sparse h... ORPHA:659
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Microcytic anemia, Abnormal circulating porphyrin concentr... ORPHA:79278
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Respiratory distress, Lymphopenia, Leukopenia, Pleural effusion, ... ORPHA:454836
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Atelectasis, Recurrent otitis media, An... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Cerebral atrophy, Aspiration pneumonia OMIM:619057
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Splenomegaly ORPHA:2414
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Emphysema, Reduced circulating complement concentration, Ascites, Autoimmunity, Episcle... ORPHA:36412
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Pallor OMIM:613561
Chime Syndrome
Erythema, Acute leukemia, Cerebral cortical atrophy, Skin ulcer, Fine hair, Retinal coloboma, Ost... ORPHA:3474
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Skin rash, Abnormal toen... ORPHA:1334
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Idiopathic Localized Lipodystrophy
Erythema, Scaling skin, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation OMIM:225050
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati... ORPHA:171
Acral Peeling Skin Syndrome
Erythema, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin, Scaling skin ORPHA:263534
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Decreased response to growth hormone stimulation test, Cystic ... OMIM:610978
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hyperpigmentation, Hypermelanotic macule, Milia, Nail dystrophy, Hypomelanotic macule, Mix... ORPHA:79399
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Lymphopenia, Abnormal pleura morphology, Eosinophilia, Arthritis ORPHA:2582
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Inguinal freckling, Erythematous papule, Epidermoid cyst, Acn... ORPHA:79145
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Reynolds Syndrome
Irregular hyperpigmentation, Skin ulcer, Skin rash, Infectious encephalitis, Keratoconjunctivitis... ORPHA:779
Nijmegen Breakage Syndrome
Recurrent pneumonia, Progressive vitiligo, Retinal pigment epithelial mottling, Recurrent otitis ... OMIM:251260
Congenital Atransferrinemia
Anemia, Arthritis ORPHA:1195
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology, Abnormal myelination ORPHA:401835
Gemignani Syndrome
Hypopigmented skin patches, Abnormal testis morphology ORPHA:2074
Laryngomalacia
Respiratory distress OMIM:150280
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa... OMIM:612714
Meconium Aspiration Syndrome
Respiratory distress, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism, Melanocytic n... OMIM:203300
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Joint contracture, Skin ulcer, Neutropenia OMIM:620443
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia Major
Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary hematopoiesis, Hypo... ORPHA:231214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A... OMIM:614742
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis, Pruritus ORPHA:90368
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Reticular hyperpigmentation, Nail dystrophy, Erythroid hypo... OMIM:618165
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia ORPHA:90117
X-Linked Sideroblastic Anemia
Anemia, Hyperpigmentation of the skin, Pallor, Splenomegaly ORPHA:75563
Inflammatory Pseudotumor Of The Liver
Weight loss, Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... OMIM:613807
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Japanese Encephalitis
Increased circulating antibody level, Pulmonary edema, Hyponatremia, Infectious encephalitis, Neu... ORPHA:79139
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Hereditary Acrokeratotic Poikiloderma
Erythema, Irregular hyperpigmentation, Skin ulcer, Hypopigmented skin patches, Eczematoid dermati... ORPHA:2907
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Generalized edema, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:603553
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia, Curly hair, Cafe-au-lait spot OMIM:616638
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
C3 Glomerulopathy
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Membranoprolife... ORPHA:329918
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Immunodeficiency 59 And Hypoglycemia
Slender finger, Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, He... OMIM:233600
Poems Syndrome
Abnormality of skin physiology, Polycythemia, Increased circulating prolactin concentration, Asci... ORPHA:2905
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... ORPHA:77259
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Anasarca, Decreased circulating IgG1 level, Lymphedema, Reduced circulating tran... ORPHA:90363
Rigid Spine Syndrome
Pneumonia, Elbow flexion contracture ORPHA:97244
Cholestasis-Lymphedema Syndrome
Erysipelas, Lymphedema, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Cryptogenic Organizing Pneumonia
Respiratory distress, Leukocytosis, Pneumothorax, Neutrophilia, Dyspnea ORPHA:1302
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... ORPHA:2930
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Pruritus ORPHA:89843
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer, Lymphadenopathy, Neoplasm of the lung ORPHA:424019
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Anemia, Decreased circulating com... ORPHA:231111
Neutrophilic Dermatosis, Acute Febrile
Erythema, Increased circulating interleukin 6 concentration, Acne inversa, Panniculitis, Anemia, ... OMIM:608068
Macrocephaly/Autism Syndrome
Coarse hair, Lymphopenia, Splenomegaly, Cutis laxa, Hepatomegaly, Decreased circulating antibody ... OMIM:605309
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Osteomalacia, Genu valgum, Cryptorchidism, Chorioretinal dysplasia, Patellar dislo... ORPHA:534
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ... ORPHA:355
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Elevated circulating creatine kinase concent... OMIM:619518
Legionnaires Disease
Bone marrow hypocellularity, Sepsis, Diarrhea, Hepatitis, Lymphopenia, Abnormal pleura morphology... ORPHA:549
Scedosporiosis
Pneumonia, Sepsis, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, ... ORPHA:449280
Muckle-Wells Syndrome
Optic atrophy, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, S... ORPHA:575
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibo... OMIM:614576
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatitis, Leukopenia, Pleural effusion, Leukocytosis, Abnormal m... ORPHA:292
Eosinophilic Gastroenteritis
Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Eleva... ORPHA:2070
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, H... ORPHA:2204
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... ORPHA:566943
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,... ORPHA:508542
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Thrombocytosis OMIM:618795
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Syndromic Diarrhea
Lymphopenia, Dry skin, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Patent ductus arter... ORPHA:84064
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Dry skin, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Abnormality of the liver, Skin rash, Splenomegaly, Hep... ORPHA:398124
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Breast hypoplasia, Absence of pubert... ORPHA:432
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjun... OMIM:120100
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Autoimmunity, Arthritis, Flexion contracture, Pulmonary fibrosis, Osteolysis ORPHA:220393
Leprosy
Uveitis, Alopecia, Testicular mass, Penetrating foot ulcers, Hypopigmented macule, Urticarial pla... ORPHA:548
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Meige Disease
Atypical scarring of skin, Skin erosion, Skin ulcer, Absence of lymph node germinal center, Lymph... ORPHA:90186
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased... OMIM:612301
Progressive Osseous Heteroplasia
Limitation of joint mobility, Abnormality of the parathyroid gland, Hypermelanotic macule, Ectopi... ORPHA:2762
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Gastroesophageal reflux, Xerostomia, Gastrointestinal hemorrhage, He... ORPHA:809
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation OMIM:614370
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Skin ulcer, Stiff neck, Respiratory tract i... ORPHA:68
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Pulmonary fibrosis, Delayed puberty, Erysipelas, Elevated circulating creatine kinase concentration OMIM:615704
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Osteoarthritis, Joint hypermobility ORPHA:90653
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer ORPHA:312
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dyspnea ORPHA:2357
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv... ORPHA:99931
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Say-Barber-Miller Syndrome
Abnormality of the hairline, Cryptorchidism, Impaired neutrophil chemotaxis, Erythema nodosum, Ro... ORPHA:3132
Hennekam-Beemer Syndrome
Pneumonia, Erythema, Optic atrophy, Mastocytosis, Irregular hyperpigmentation, Delayed cranial su... ORPHA:2135
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Joint swelling, Skin rash, Pustule, Abscess, Neutrophilia, Elevated ... OMIM:612852
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Juvenile Dermatomyositis
Erythema, Alopecia, Limitation of joint mobility, Skin ulcer, Dry skin, Autoimmunity, Skin rash, ... ORPHA:93672
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Recurrent pneumonia ORPHA:254875
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decr... OMIM:619750
Alg12-Cdg
Recurrent pneumonia, Small nail, Abnormal circulating IgM level, Complete or near-complete absenc... ORPHA:79324
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Small scrotum, Recurrent upper respiratory ... OMIM:607143
Buerger Disease
Skin ulcer ORPHA:36258
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly... ORPHA:2072
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Hermansky-Pudlak Syndrome 6
Recurrent upper respiratory tract infections, Hypopigmentation of the skin, Ocular albinism, Part... OMIM:614075
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Lead Poisoning
Abnormality of humoral immunity, Decreased male libido, Imbalanced hemoglobin synthesis, Decrease... ORPHA:330015
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... ORPHA:564003
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Infantile Systemic Hyalinosis
Osteopenia, Skin ulcer, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased suscept... ORPHA:2176
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Depigmentation/hyperpigmentation of skin, Hypopigmentation of the skin, Alopecia, Atrop... ORPHA:79396
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromi... OMIM:616084
Shigellosis
Pneumonia, Sepsis, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, ... ORPHA:810
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Chronic Graft Versus Host Disease
Erythema, Alopecia, Skin ulcer, Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleural ef... ORPHA:99921
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnor... OMIM:181000
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... ORPHA:99829
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onychog... OMIM:308300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema ORPHA:100057
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Dry... OMIM:613990
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal number of dense granules, Impaired platelet aggregation, A... OMIM:614072
Niemann-Pick Disease, Type A
Vomiting, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Constip... OMIM:257200
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... ORPHA:420741
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Mevalonic Aciduria
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Elevate... OMIM:610377
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Abnormal lymph node morphology, Elevated circulating C-reactive prot... ORPHA:54251
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... ORPHA:70578
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Splenomegaly, Aplasia/Hypoplasia of the lungs, Anemia ORPHA:1046
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Chilblains, Increased circulating interferon-gamma concentration OMIM:612952
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media OMIM:617092
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Abnormal pleura morphology, Thrombocytopenia, Dy... ORPHA:210136
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Osteomyelitis, Acral ulceration, N... OMIM:256800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Phenylketonuria
Fair hair, Eczematoid dermatitis, Dry skin, Blue irides, Generalized hypopigmentation OMIM:261600
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Elevated circulating creatine kinase concentr... ORPHA:79332
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Recurrent respiratory... ORPHA:90045
Majeed Syndrome
Metaphyseal irregularity, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Sple... ORPHA:77297
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Br... ORPHA:1451
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Aspiration pneumonia, Neutropenia, Sparse hair, Bronchiectasis OMIM:618253
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Myotonic Dystrophy 2
Decreased circulating IgG level, Hypogonadism, Type II diabetes mellitus, Elevated circulating cr... OMIM:602668
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Atelectasis, Pulmonary fibrosis, Hepatocellular necrosis, Hepato... OMIM:618278
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Abnormal pleura morphology, Pancreatitis, Macule, Neutropenia, Thrombocytop... ORPHA:537
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, ... ORPHA:247353
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Abnormal circulating aldosterone, Osteomyelitis, Glucocortocoi... ORPHA:171876
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Cold Agglutinin Disease
Diarrhea, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Recurrent infections, Gout, Neutropenia OMIM:617056
Antisynthetase Syndrome
Xerostomia, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjun... ORPHA:81
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Abnormality of the pulmona... ORPHA:895
Waardenburg Syndrome, Type 3
Joint contracture of the hand, Hypopigmented skin patches, Premature graying of hair, Partial alb... OMIM:148820
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... OMIM:152700
Bone Marrow Failure Syndrome 3
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, Hypomelan... OMIM:617052
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea, Acne OMIM:604931
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Hyperpigmentation of the skin, Cirrhosis, Anemia OMIM:613313
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612286
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Thin skin ORPHA:261304
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... ORPHA:98850
Hajdu-Cheney Syndrome
Osteopenia, Coarse hair, Periodontitis, Skin ulcer, Abnormal fingernail morphology, Dry skin, Thi... ORPHA:955
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Localized skin lesion, Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bone... ORPHA:371428
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Respiratory distress, Keratoconjunctivitis, Tachypnea, Th... ORPHA:79242
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Osteolytic defects of the phalanges of the hand, Acral ulceration OMIM:613115
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Premature graying of hair, Pancyt... OMIM:613989
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Leukocytosis, Rectal... OMIM:116920
Amyloidosis, Hereditary Systemic 2
Cholestasis, Splenomegaly, Skin rash, Hepatomegaly OMIM:105200
Porphyria Variegata
Localized skin lesion, Skin erosion, Hypopigmentation of the skin, Hypertrichosis, Milia, Skin ve... ORPHA:79473
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hyperlipidemia, Crypt... ORPHA:91
Congenital Syphilis
Pneumonia, Optic atrophy, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplant... ORPHA:499009
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anem... OMIM:227645
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Alopecia, Antineutrophil antibody positivity, Microangiopathic hem... ORPHA:93552
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hepatomegaly ORPHA:391
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul... OMIM:620367
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Multiple suture craniosynostosis, Melanocytic nevus, C... ORPHA:207
Cryptococcosis
Pneumonia, Sepsis, Vomiting, Systemic lupus erythematosus, Osteomyelitis, Nodular pattern on pulm... ORPHA:1546
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Bronchiectasis, Chronic sinusitis, Chronic rhinitis OMIM:614017
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... OMIM:615846
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Timothy Syndrome
Pneumonia, Bronchitis, Cardiomegaly, Hypothyroidism, Cutaneous syndactyly, Recurrent infections OMIM:601005
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Foot... OMIM:256840
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepatomegaly, Recurre... OMIM:613489
Farber Disease
Recurrent upper respiratory tract infections, Macular degeneration, Atelectasis, Cherry red spot ... ORPHA:333
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Eleva... OMIM:604173
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Anterior hypopituitarism, Breast hypoplasia, Absence of seco... ORPHA:2235
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Macule, Arthritis, Subcutaneou... ORPHA:3165
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Occipital encephalocele, Hydrocephalus ORPHA:352682
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res... OMIM:613808
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr... OMIM:617827
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Chronic sinusitis ORPHA:137914
Tafro Syndrome
Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Leukocytosis, Spl... ORPHA:457077
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Trichothiodystrophy
Diffuse cerebellar atrophy, Dry skin, Cryptorchidism, Neutropenia, Brittle hair, Split nail, Oste... ORPHA:33364
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Congenital Rubella Syndrome
Splenomegaly, Skin rash, Abnormality of the pulmonary artery, Hepatomegaly, Thrombocytopenia, Ane... ORPHA:290
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79430
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Alopecia, Decreased circulating complemen... ORPHA:536
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Yellow Nail Syndrome
Rhinitis, Sinusitis, Dyspnea, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neopla... ORPHA:662
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Listeriosis
Arteritis, Diarrhea, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepati... ORPHA:533
Familial Mediterranean Fever
Erysipelas, Pleural effusion, Splenomegaly, Leukocytosis, Orchitis, Crohn's disease, Peritonitis,... OMIM:249100
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Chronic ot... OMIM:612650
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Xerostomia, Peripheral edema, Increased circulating antibod... ORPHA:85443
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Hypoplasia of penis, Cryptorchidism, Hypogonadism ORPHA:3409
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Aspiration pneumonia, Increased susceptibility to fractures, Rod-cone dys... ORPHA:216866
Rat-Bite Fever
Sepsis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Abdominal aseptic absces... ORPHA:31205
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy... ORPHA:398063
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Macular edema, Nongranulomatous uveitis, Panuveitis, Elevat... ORPHA:91500
Caffey Disease
Increased circulating antibody level ORPHA:1310
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Painless fractures due to injury, Decreased nerve conduction velocity, Acral... OMIM:201300
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Acral ulceration, Arthropathy, Osteoarthritis, S... OMIM:608654
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Retinal thinning, Joint stiffness, Genu valgum, Asteroid hyalosis, ... ORPHA:166011
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Decreased circulating IgA level, Cryptorchidism, Curly hair, Cafe-au-... ORPHA:457485
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Hereditary Orotic Aciduria
Impaired T cell function, Splenomegaly, Abnormal toenail morphology, Anemia, Recurrent respirator... ORPHA:30
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
American Trypanosomiasis
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Hepatomegaly, Achalasia, Lymphadenopa... ORPHA:3386
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Hyperp... OMIM:600901
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hyper... ORPHA:284
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Impaired T cell function, Decreased testicular size, Dry skin, Alopecia of sca... OMIM:201100
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Hypopigmented skin patches, Recurrent intrapulmonary hemorrh... ORPHA:183
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cerebellar atrophy, Splenomegaly, Osteopetrosis, Hypopigmentation o... OMIM:618541
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abnormal morphology of ... ORPHA:99429
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Penetrating foot ulcers ORPHA:99956
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Redundant skin, Aplasi... ORPHA:1807
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morp... OMIM:242900
Papillon-Lefèvre Syndrome
Abnormality of the nail, Periodontitis, Cigarette-paper scars, Hypopigmented skin patches, Sparse... ORPHA:678
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Psoriasiform dermatitis, Hypocalcemia ORPHA:2237
Mohr-Tranebjaerg Syndrome
Optic atrophy, Global brain atrophy, Aspiration pneumonia, Abnormality of somatosensory evoked po... ORPHA:52368
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Facial paralysis, Frac... OMIM:166600
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Follicular Lymphoma
Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymp... ORPHA:545
Large Congenital Melanocytic Nevus
Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit... ORPHA:626
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop... ORPHA:69087
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Gastroesophageal reflux, Intermittent diarrhea OMIM:619971
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Long ... ORPHA:79329
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Alopecia Antibody Deficiency
Sparse body hair, Decreased circulating antibody level, Aplasia/Hypoplasia of the eyebrow, Abnorm... ORPHA:1006
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Cowden Syndrome 1
Goiter, Skin tags, Lymphopenia, Angioid streaks of the fundus, Ovarian cyst, Ovarian carcinoma, A... OMIM:158350
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anemic... OMIM:227650
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Constipa... ORPHA:99745
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Thrombocytopenia ORPHA:370924
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Combined Immunodeficiency-Enteropathy Spectrum
Hashimoto thyroiditis, Psoriasiform dermatitis, Hepatitis ORPHA:436252
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Hypocholesterolemia, Decreased circulating IgA ... OMIM:212065
Adult Polyglucosan Body Disease
Limitation of joint mobility, Skin ulcer ORPHA:206583
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar... OMIM:620233
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Trichiasis, Atypical scarring of skin, Inflammatory abnormality of the skin, Keratitis... ORPHA:95455
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchit... ORPHA:32960
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent ... OMIM:603165
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmunity, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Ch... ORPHA:90033
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Atrichia, Alopecia, Decreased testicular size, Nail dystrophy, Cryptorchidism, Spotty ... ORPHA:1867
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Bone marrow hypocellularity, Shallow acetabular fossae, Abnorm... ORPHA:1830
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Graves disease, Autoimmunity, Episcleritis, Splenomegaly, Increased circulat... ORPHA:525731
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tai... OMIM:601675
Acute Generalized Exanthematous Pustulosis
Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de... ORPHA:293173
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Respiratory distress, Emphysema, Osteomye... ORPHA:31204
Menkes Disease
Alopecia, Hypopigmentation of the skin, Joint hypermobility, Wormian bones, Cutis laxa, Brittle h... OMIM:309400
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hirsutism, Generalized hypo... ORPHA:1816
Nodular Non-Suppurative Panniculitis
Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Prolonged G2 phase o... OMIM:227646
Stickler Syndrome, Type I
Vitreoretinopathy, Joint stiffness, Arthropathy, Joint hypermobility, Membranous vitreous appeara... OMIM:108300
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Hirsutism,... OMIM:613327
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Eczematoid dermatitis, Lack of skin elast... ORPHA:79254
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Perinuclear antineutrophil antibody pos... ORPHA:60
Dengue Fever
Ascites, Leukopenia, Skin rash, Thrombocytopenia, Pruritus, Hypoproteinemia ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Thrombocytopenia OMIM:615597
Lymphatic Malformation 7
Chylothorax, Respiratory distress, Pleural effusion, Pulmonary edema, Anemia OMIM:617300
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon... ORPHA:199241
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Eczematoid de... OMIM:615895
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Cerebellar atrophy, Hypertrichosis, Thick eyebrow, Splenomegaly, Low a... OMIM:248500
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Atelectasis, Bilateral cryptorchidism OMIM:300219
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71526
Localized Scleroderma
Erythema, Skin erosion, Localized skin lesion, Hypopigmented skin patches, Abnormal skin adnexa m... ORPHA:90289
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Dry skin, Goiter ORPHA:226313
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Hyperpigmentation of the skin, Prolonged neonatal ja... OMIM:618892
Plague
Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li... ORPHA:707
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Curry-Jones Syndrome
Hypopigmented skin patches, Optic disc coloboma, Generalized hirsutism, Aplasia/Hypoplasia of the... ORPHA:1553
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Psoriasiform dermatitis, Blepharitis ORPHA:69085
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Generalized hypopigmentat... ORPHA:2720
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Cutaneous abscess, Hypertrichosis, Systemic lupus erythematosus, Hi... ORPHA:101330
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Hypopigmentation of the skin, Cerebral atrophy, Cryptorchidism, Hirsutism, Synophrys OMIM:614969
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Roifman-Chitayat Syndrome
Pneumonia, Optic atrophy, Osteopenia, Arthritis OMIM:613328
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the skin, Abnormal circulati... ORPHA:94059
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly OMIM:300484
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h... OMIM:278000
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Malakoplakia
Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Follic... ORPHA:556
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Small cell lung carcinoma, Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarc... ORPHA:99889
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Abnormality of skin pigmentation ORPHA:745
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Abnormality of the hepatic vasculature, Sepsis, Nodular regenerativ... ORPHA:247691
Wolman Disease
Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Steat... ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iq
Dry skin, Cutis laxa, Abnormality of skin pigmentation, Hypertrichosis OMIM:612379
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uve... OMIM:616744
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Camptodactyly of finger, Low posterior hairline, Cubitus valgus, Fl... ORPHA:261519
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... ORPHA:288
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair sulfur content, Decreased testic... OMIM:300953
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, P... ORPHA:228426
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections,... ORPHA:935
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Absent thumb, Short thumb, Decreased response to growth h... OMIM:603467
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... OMIM:158310
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Joint hypermobili... ORPHA:2715
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anem... ORPHA:88
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea ORPHA:247257
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Recurrent otitis media, Micro... ORPHA:99843
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Small nail, Pterygium of nails, P... OMIM:224230
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Skin plaque, Tubulo... ORPHA:797
Rothmund-Thomson Syndrome
Osteopenia, Sparse eyebrow, Hypopigmentation of the skin, Aplastic anemia, Small nail, Alopecia t... ORPHA:2909
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails OMIM:245660
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ... ORPHA:348
Diffuse Cutaneous Mastocytosis
Skin erosion, Abnormality of the spleen, Mixed hypo- and hyperpigmentation of the skin, Lymphocyt... ORPHA:79456
Calciphylaxis
Secondary hyperparathyroidism, Ectopic ossification, Skin ulcer ORPHA:280062
Wilson Disease
Hepatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Anemia, Cirrhosis, Abnormality of the h... ORPHA:905
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Ecchymosis, Lymph... ORPHA:520
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613736
Hemochromatosis, Type 1
Alopecia, Ascites, Pleural effusion, Splenomegaly, Cardiomegaly, Cirrhosis, Hyperpigmentation of ... OMIM:235200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Propionic Acidemia
Eczematoid dermatitis, Pancytopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Neutropenia, ... OMIM:606054
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma... OMIM:246400
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... ORPHA:85435
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Xeroderma Pigmentosum
Erythema, Optic atrophy, Alopecia, Keratitis, Hypopigmented skin patches, Cerebral cortical atrop... ORPHA:910
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Chronic Actinic Dermatitis
Allergic rhinitis, Erythematous papule, Eczematoid dermatitis, Hypopigmented skin patches, Progre... ORPHA:330064
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Behcet Syndrome
Erythema, Chorioretinitis, Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Epididymi... OMIM:109650
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Ocular albinism, Hypoplasia of the fovea, Iris transillumination defect, Blue i... OMIM:614077
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ... OMIM:615444
Zygomycosis
Diarrhea, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorr... ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress OMIM:615042
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Meconium ileus, Clubbing of fingers, Exocrine p... OMIM:219700
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Cleft Velum
Recurrent otitis media, Oral-pharyngeal dysphagia, Aspiration pneumonia ORPHA:99772
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esoph... OMIM:147060
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Oral-pharyngeal dysph... ORPHA:98897
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Small pituitary gland, Osteopenia, Hypopigmentation of the skin, ... ORPHA:398079
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Porphyria, Congenital Erythropoietic
Osteopenia, Atypical scarring of skin, Hypopigmentation of the skin, Alopecia, Cholelithiasis, Jo... OMIM:263700
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblai... OMIM:619858
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Cirrhosis, Thrombocytopenia, Testicula... OMIM:613987
Acquired Methemoglobinemia
Respiratory distress, Methemoglobinemia, Dyspnea ORPHA:464453
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, ... ORPHA:1930
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Celiac Disease, Susceptibility To, 1
Alopecia, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis OMIM:212750
Hermansky-Pudlak Syndrome 10
Ocular albinism, Splenomegaly, Hepatomegaly, Neutropenia, Albinism, Abnormal pulmonary interstiti... OMIM:617050
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circul... ORPHA:470
Hemochromatosis, Type 2A
Hyperpigmentation of the skin, Splenomegaly, Arthritis OMIM:602390
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Chromomycosis
Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Osteolys... ORPHA:182
Gaucher Disease, Type Ii
Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Rec... OMIM:230900
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatosplenomegaly, Apnea, Splenomegaly, Petechiae, Thrombocytopenia, Anemi... OMIM:608013
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... ORPHA:1772
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Arthritis,... ORPHA:85446
Trichohepatoenteric Syndrome 1
Sparse hair, Hepatic fibrosis, Fine hair, Cholestasis, Trichorrhexis nodosa, Curly hair, Splenome... OMIM:222470
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Acne, Menorrhagia ORPHA:2795
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Abnormality of skin pigmentation OMIM:613988
Alg3-Cdg
Osteopenia, Hypopigmentation of the skin, Arthrogryposis multiplex congenita, Subcortical cerebra... ORPHA:79321
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Splenomegaly OMIM:608799
Scleromyxedema
Abnormal pulmonary artery morphology, Paraproteinemia, Elevated circulating creatine kinase conce... ORPHA:167635
Scrub Typhus
Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Hyperhidrosis, Myocarditis, An... ORPHA:83317
Bronchial Neuroendocrine Tumor
Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentrati... ORPHA:97287
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Elevate... ORPHA:99826
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Lujo Hemorrhagic Fever
Atelectasis, Respiratory distress, Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapula... ORPHA:319213
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Delayed puberty, Thromb... ORPHA:77261
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration, Acne ORPHA:1551
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Anti-centromere antibody positivity, Palmar telan... OMIM:613471
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Xq12-Q13.3 Duplication Syndrome
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Cryptorchidism, Elevated cir... ORPHA:314389
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal hair morphology, Lack of skin elasticity, Abnormality of skin pigmentation, Premature gr... ORPHA:1979
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea, Aspiration pneumonia ORPHA:79264
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Hyperpigmentation of the skin, Thrombocy... OMIM:230800
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Immune-Mediated Necrotizing Myopathy
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Myocarditis, Abnormal pu... ORPHA:206569
Kikuchi-Fujimoto Disease
Abnormal pulmonary interstitial morphology, Abnormal lymph node morphology, Cervical lymphadenopa... ORPHA:50918
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Megaloblastic anemia, Neutropenia OMIM:250940
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections OMIM:211530
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Pelizaeus-Merzbacher Disease
CNS hypomyelination, Failure to thrive, Sudanophilic leukodystrophy, Reduction of oligodendroglia... OMIM:312080
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Hepatosplenomegaly, Joint stiffness, Abnormal hip joint morph... ORPHA:85408
Pachydermoperiostosis
Gastrointestinal hemorrhage, Small hand, Palmoplantar keratoderma, Eczematoid dermatitis, Clubbin... ORPHA:2796
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized ... ORPHA:1969
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia ORPHA:2590
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Pulmonary hypoplasia ORPHA:3309
Rothmund-Thomson Syndrome Type 2
Erythema, Aplastic anemia, Dermal atrophy, Alopecia totalis, Cryptorchidism, Patellar aplasia, Ne... ORPHA:221016
Intellectual Developmental Disorder, Autosomal Recessive 78
Cubitus valgus, Hypopigmentation of the skin, Optic neuropathy OMIM:620237
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Chops Syndrome
Optic atrophy, Coarse hair, Tracheomalacia, Aspiration pneumonia, Long eyelashes, Thick eyebrow, ... OMIM:616368
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Gliosis, Failure to thrive ORPHA:280210
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglionic megacolon, White ey... ORPHA:2884
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Alopecia, Decreased testicular size, Genu valgum, Leukocytosis, Hypoplasia of the ... OMIM:619321
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Dry skin, Portal hypertension, Splenomeg... OMIM:607626
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Sparse eyelashes, Cutis laxa, Abnormality of skin pigmentation, Sparse scalp hair ORPHA:75496
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Brain abscess, Diarrhe... ORPHA:544482
Whipple Disease
Uveitis, Mediastinal lymphadenopathy, Diarrhea, Gastrointestinal hemorrhage, Splenomegaly, Infect... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level, Long eyelashes OMIM:606056
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Genu valgum, Splenomegaly, Sinusitis, Abnormal meta... ORPHA:583
Cranio-Osteoarthropathy
Mottled pigmentation, Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Art... ORPHA:1525
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointerstitial... OMIM:251000
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Small pituitary gland, Osteopenia, Hypopigmentation of the skin, ... ORPHA:398069
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... OMIM:606003
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Arthri... OMIM:210250
Gapo Syndrome
Optic atrophy, Alopecia, Sparse eyebrow, Hypopigmented skin patches, Skin tags, Sparse eyelashes,... ORPHA:2067
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Hypopigmented skin patches ORPHA:1825
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism ORPHA:1145
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, 2-3 toe syndactyly, Const... OMIM:618162
Slc35A2-Cdg
Osteopenia, Hypopigmentation of the skin, Cerebellar atrophy, Cerebral atrophy, Camptodactyly of ... ORPHA:356961
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Hyperkalemia, Abnormal circulati... ORPHA:90794
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Osteoarthr... ORPHA:77296
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Scleritis, Keratoconjunctivitis, Poikilocytosis, Seborrhoeic blepharitis, ... ORPHA:79277
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia OMIM:613070
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Rectovaginal fis... OMIM:612567
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Respiratory distress, Episodic tachypnea, Tachypnea ORPHA:26793
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Osteopenia, Skin erosion, Hypopigmentation of the skin, Facial hypertric... ORPHA:95159
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Intestina... ORPHA:131
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Testicular atrophy OMIM:160900
Kasabach-Merritt Phenomenon
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Reticulocytosis, P... ORPHA:2330
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Pallor, Petechiae,... ORPHA:90051
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Hepatomegaly, Pancreatitis, Neutropenia,... OMIM:232220
Angelman Syndrome
Iris hypopigmentation, Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Fa... ORPHA:72
Revesz Syndrome
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Nail dystrophy, Macro... OMIM:268130
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis OMIM:226300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Cholelithiasis, Coarse hair, Eczematoid dermatitis, Pancreatic hypoplas... ORPHA:83617
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Petechiae, Impaired coll... OMIM:153670
Opsismodysplasia
Broad thumb, Splenomegaly, Brachydactyly, Hepatomegaly, Recurrent respiratory infections, Abnorma... ORPHA:2746
Marshall Syndrome
Sparse eyebrow, Vitreoretinopathy, Genu valgum, Sparse eyelashes, Abnormal vitreous humor morphol... ORPHA:560
Rothmund-Thomson Syndrome Type 1
Osteopenia, Hypopigmentation of the skin, Aplastic anemia, Patellar hypoplasia, Dermal atrophy, A... ORPHA:221008
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Diaphyseal undertubulation, Metatar... ORPHA:584
Gm1 Gangliosidosis
Gastroesophageal reflux, Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, Asp... ORPHA:354
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Alpha-Mannosidosis
Synostosis of joints, Splenomegaly, Arthritis, Recurrent respiratory infections, Chronic otitis m... ORPHA:61
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Hypopigmentation of the skin, Limitation of joint mobility, Pancreatiti... OMIM:236200
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica... OMIM:617718
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Lichen Planus Pemphigoides
Abnormality of the nail, Skin vesicle, Hypopigmented streaks, Conjunctivitis, Blepharitis ORPHA:254478
Hypophosphatasia
Failure to thrive in infancy, Anemia, Emphysema ORPHA:436
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Behçet Disease
Acne, Recurrent aphthous stomatitis, Pleural effusion, Retinopathy, Splenomegaly, Infectious ence... ORPHA:117
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infections, Chronic neut... OMIM:258360
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Periodontitis, Central adrenal insufficiency, Cr... ORPHA:739
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Cervical lymphadenopathy, Skin rash, Myositis, Oligoarthritis, Periorbital edema, Con... OMIM:142680
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Osteopetrosis, Autosomal Recessive 1
Flared metaphysis, Osteomyelitis, Pancytopenia, Splenomegaly, Hepatomegaly, Femur fracture, Throm... OMIM:259700
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Mucolipidosis Ii Alpha/Beta
Cerebral cortical atrophy, Recurrent pneumonia, Hypopigmentation of the skin, Sparse eyebrow, Lim... OMIM:252500
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Atypical scarring of skin, Webbed neck, Knee dislocation, Atrophic scars, Thin eyebro... OMIM:618000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea OMIM:614299
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusitis, Elevate... OMIM:613960
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Gastroesophageal reflux, Single transverse palmar crease, Limb un... ORPHA:79243
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Emphysema, Redundant skin, Cutis laxa, Dyspnea, Bronchiectasis OMIM:123700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, I... ORPHA:90790
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Respiratory distress, Hypoparathyroidism, Abnormal pulmonary interstitial mo... ORPHA:209905
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Ascites, Splenomegaly, ... OMIM:602347
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Neurofibromatosis Type 1
Hypopigmented skin patches, Chorioretinal coloboma, Genu valgum, Cryptorchidism, Leukemia, Subcut... ORPHA:636
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Cryptorchidism, Redundant neck skin, Supernumerary nipple ORPHA:2519
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of fin... OMIM:602782
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Diarrhea, Splenomegaly, Cirrhosis, Acholic stools... OMIM:607765
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Rheumatic Fever
Erythema, Abnormal pleura morphology, Pallor, Sinusitis, Macule, Arthritis, Recurrent pharyngitis... ORPHA:3099
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Edema of the dorsum of hands, R... ORPHA:568051
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... OMIM:617321
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Alopecia, Hypopigmentation of the skin, Joint dislocation, Eczematoid dermatitis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Alopecia, Hypopigmentation of the skin, Joint dislocation, Eczematoid dermatitis, ... ORPHA:363958
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath... OMIM:267700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Recurrent otitis media, Redundant skin, Palmoplantar cutis laxa, Central apnea OMIM:616482
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatitis, Splenomeg... OMIM:613812
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Respiratory distress, Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Hypopigmentation of the skin, Nevus, Hypophosphatemic rickets, Linear nevus... OMIM:163200
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Pallor, Autoimmune hemolytic anemia, Systemic lupus erythematosus ORPHA:90036
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Sparse lateral eyebrow, Decreased circulating I... OMIM:223370
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta... ORPHA:53035
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine hair, Leukopenia, Pulmonary hemor... OMIM:222700
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent otitis media, Pyelonephritis, ... OMIM:610984
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Acute pancreatitis, Ascites, Hepatosplenomegaly, Hemolytic anemia, Chilblains, H... OMIM:619487
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal femur morphology, Pleural effusion, Splenomegaly, Lymphangioma, Abno... ORPHA:464329
Autoimmune Polyendocrinopathy Type 1
Alopecia, Chronic mucocutaneous candidiasis, Hypopigmented skin patches, Abnormal fingernail morp... ORPHA:3453
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Granulocytopenia, Macrocytic anemia OMIM:606164
Viss Syndrome
Pulmonary artery aneurysm, Alopecia, Emphysema, Increased circulating IgE level, Decreased circul... OMIM:619472
Eec Syndrome
Sparse eyebrow, Coarse hair, Keratitis, Nevus, Fine hair, Decreased response to growth hormone st... ORPHA:1896
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Adiposis Dolorosa
Sparse pubic hair, Dry skin, Autoimmunity, Sparse axillary hair, Arthritis, Subcutaneous nodule, ... ORPHA:36397
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... ORPHA:79323
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respirat... ORPHA:141083
Melorheostosis
Atypical scarring of skin, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis, Inc... ORPHA:2485
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Al-Raqad Syndrome
Hypopigmentation of the skin, Joint hypermobility OMIM:616459
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Galloway-Mowat Syndrome 1
Optic atrophy, Joint contracture of the hand, Hypopigmentation of the skin, Cerebellar atrophy, S... OMIM:251300
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmentation of the fundus, Hypopigmented skin patches, Premature gray... OMIM:611584
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Cysticercosis
Abnormal optic chiasm morphology, Stiff neck, Chorioretinitis, Infectious encephalitis, Increased... ORPHA:1560
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hydrocele testis, Pedal edema ORPHA:79452
Moebius Syndrome
Respiratory distress, Decreased testicular size OMIM:157900
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea OMIM:115197
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Respiratory distress, Splenomegaly, Macrocytic anemia, Cholecy... OMIM:615512
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Hennekam Syndrome
Chylothorax, Erysipelas, Lymphedema, Ascites, Lymphopenia, Decreased circulating antibody level, ... ORPHA:2136
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent... OMIM:610199
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de... OMIM:612132
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Irregular respiration OMIM:604377
Autoimmune Polyendocrinopathy Type 2
Hashimoto thyroiditis, Alopecia, Hypoparathyroidism, Hypopigmented skin patches ORPHA:3143
Wolfram Syndrome 2
Optic atrophy, Impaired collagen-induced platelet aggregation, Decreased circulating antibody lev... OMIM:604928
Phakomatosis Pigmentovascularis
Cerebral cortical atrophy, Hypopigmented skin patches, Generalized hyperpigmentation, Nevus flamm... ORPHA:2875
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Recurrent lower respiratory tract infections, Exertional dyspnea, Hypoventi... ORPHA:98915
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Recurrent skin infections, Pustule, Seborrheic dermatitis, Multiple c... ORPHA:302
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pleuritis, ... OMIM:609939
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, Small for gestational age ORPHA:289266
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, Cutis laxa, Dyspnea ORPHA:363705
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Hepatitis, Dry skin, Vitiligo, Autoimmunity, Macrocytic ane... ORPHA:199299
Trichinellosis
Facial edema, Increased circulating IgE level, Skin rash, Periorbital edema, Conjunctivitis, Edema ORPHA:863
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... OMIM:601847
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract... ORPHA:60025
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Alfadhel Syndrome
Nasal flaring OMIM:620655
Dermatitis Herpetiformis
Eczematoid dermatitis, Microcytic anemia, Abnormality of the thyroid gland, Pruritus, Edema ORPHA:1656
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Dyspnea, Respiratory distress, Leukocytosis, Pleural effusion, Petechiae, Ecchymosis, ... ORPHA:340
Cartilage-Hair Hypoplasia
Sparse eyebrow, Abnormally ossified vertebrae, Decreased circulating antibody level, Limited elbo... ORPHA:175
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Small scrotum, Cryptorchidism, Micropenis, Polyhydramnios, Recurrent respiratory infec... ORPHA:98905
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hypopigmented skin pat... ORPHA:206436
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Aapoaiv Amyloidosis
Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia, Abnormal lung mor... ORPHA:439232
Degcags Syndrome
Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Genu valgum, Cryptorchidism, Low pos... OMIM:619488
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Osteoarthriti... ORPHA:1416
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Waardenburg Syndrome, Type 1
Hypopigmentation of the fundus, Premature graying of hair, Partial albinism, Thick eyebrow, White... OMIM:193500
Neuroblastoma
Respiratory distress, Anemic pallor, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:635
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Familial Mediterranean Fever
Diarrhea, Erysipelas, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Intestinal obstru... ORPHA:342
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Cystic Fibrosis
Gastroesophageal reflux, Meconium ileus, Recurrent Burkholderia cepacia infections, Recurrent Asp... ORPHA:586
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Alpha-Mannosidosis, Infantile Form
Pneumonia, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopenia, Genu valgum, Oti... ORPHA:309282
Nail-Patella Syndrome
Toenail dysplasia, Contracture of the distal interphalangeal joint of the fingers, Patellar aplas... ORPHA:2614
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea OMIM:235555
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis, Decreased serum zinc OMIM:608118
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Menorrhagia, Abnormal erythrocyte morphology, Superficial dermal peri... ORPHA:324636
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Lymphadenopathy, Periorbital edema, Cheilitis, Edema ORPHA:2483
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia OMIM:151210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Sepsis, Vomiting, Polysplenia, Exocrine pancreatic i... OMIM:619418
Diaphanospondylodysostosis
Respiratory distress, Pulmonary hypoplasia OMIM:608022
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Skin rash,... OMIM:277380
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Prolon... OMIM:607625
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Keratitis, Vomiting, Aspiration pneumonia, Tracheobronchial leiomyomatos... ORPHA:1018
Bardet-Biedl Syndrome
Irregular menstruation, Inflammation of the large intestine, Aplasia/Hypoplasia of the vagina, Hy... ORPHA:110
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Monosomy 18Q
Secondary growth hormone deficiency, Bilateral cryptorchidism, Decreased circulating IgA level, L... ORPHA:1600
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Abnormal pulmonary interstitial morphology, Cervical lymphadenopathy,... ORPHA:2331
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... OMIM:158330
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis, Optic disc coloboma ORPHA:92050
22Q11.2 Deletion Syndrome
Hypopigmented skin patches, Cryptorchidism, Patellar dislocation, Hypoparathyroidism, Purpura, Ch... ORPHA:567
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Rickets, Retinal pigment epithelial mottlin... OMIM:219800
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,... OMIM:611881
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Biotinidase Deficiency
Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Conjunctivitis, Hyperventilation ORPHA:79241
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Hypoparathyroidism ORPHA:50810
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia OMIM:231680
Esophageal Atresia
Bronchitis, Respiratory distress, Esophagitis, Pallor, Episodic respiratory distress, Recurrent r... ORPHA:1199
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Genu valgum, Splenomegaly, Chronic const... OMIM:253200
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Occipital cortical atrophy, Osteopenia, Hypopigmentation of the skin, Pari... ORPHA:98754
Adenocarcinoma Of The Anal Canal
Skin ulcer, Lymphadenopathy, Neoplasm of the lung ORPHA:424016
Mucopolysaccharidosis Type 2, Severe Form
Localized skin lesion, Optic atrophy, Recurrent upper respiratory tract infections, Limitation of... ORPHA:217085
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Occipital cortical atrophy, Osteopenia, Hypopigmentation of the skin, Pari... ORPHA:98793
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Cornelia De Lange Syndrome 1
Pneumonia, Optic atrophy, Highly arched eyebrow, Optic disc coloboma, Elbow flexion contracture, ... OMIM:122470
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Occipital cortical atrophy, Osteopenia, Hypopigmentation of the skin, Pari... ORPHA:177904
Encephalitis Lethargica
Recurrent viral infections, Autoimmunity, Bowel incontinence, Increased circulating antibody level ORPHA:83600
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Occipital cortical atrophy, Osteopenia, Hypopigmentation of the skin, Pari... ORPHA:177901
Geleophysic Dysplasia 3
Pneumonia, Limited elbow movement, Limb undergrowth, Brachydactyly, Hepatomegaly, Short foot, Lim... OMIM:617809
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Increased serum test... ORPHA:96181
Mucopolysaccharidosis Type 2, Attenuated Form
Localized skin lesion, Optic atrophy, Recurrent upper respiratory tract infections, Limitation of... ORPHA:217093
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Lateral ventricle dilatation, Atelectasis, Splenic cyst, Decreased body weight, ... OMIM:620371
Biotinidase Deficiency
Diarrhea, Vomiting, Skin rash, Splenomegaly, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis,... OMIM:253260
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Overlapping fingers, Bi... OMIM:619708
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatosplenomegaly ORPHA:367
Oculocerebrocutaneous Syndrome
Preauricular skin tag, Alopecia, Congenital hip dislocation, Hypopigmented skin patches, Abnormal... ORPHA:1647
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Eczematoid dermatitis, Periorbital wrinkles, Respiratory distress, Dry skin, Aplas... OMIM:305100
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Hypopigmented skin patches, Dermal atrophy, Abnormality of retinal pigmentation, Aplasi... ORPHA:2556
Familial Cold Urticaria
Conjunctivitis, Erythema, Arthritis ORPHA:47045
Kniest Dysplasia
Respiratory distress, Recurrent otitis media OMIM:156550
Parkes Weber Syndrome
Capillary malformation, Erythematous plaque, Skin ulcer, Scaling skin ORPHA:90307
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin, Keratitis, Dermal atrophy, Freckling, Conjunctivitis OMIM:278720
Focal Dermal Hypoplasia
Optic atrophy, Congenital hip dislocation, Hypopigmentation of the skin, Focal dermal aplasia/hyp... OMIM:305600
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Lyme Disease
Dermal atrophy, Joint swelling, Infectious encephalitis, Arthritis, Skin nodule, Uveitis ORPHA:91546
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Skin rash, Megaloblastic anemia, Hyperho... ORPHA:79284
Epidermal Nevus Syndrome
Osteopenia, Hypopigmentation of the skin, Nevus, Hyperpigmentation of the skin, Atrophy of the sp... ORPHA:35125
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia OMIM:258865
Chikungunya
Erythema, Depigmentation/hyperpigmentation of skin, Osteolysis, Cervical lymphadenopathy, Joint s... ORPHA:324625
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Abnormal fingertip morphology, Sepsis, Vomiting, Recurrent urinary tract infections, P... ORPHA:79404
Alg9-Cdg
Abnormal lung lobation, Oligohydramnios, Hypoplastic nipples, Hypoplasia of the ovary, Pericardia... ORPHA:79328
Arterial Tortuosity Syndrome
Respiratory distress, Esophagitis, Redundant skin, Pulmonary artery stenosis, Myocarditis, Dyspnea ORPHA:3342
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Throm... OMIM:301072
Duane Retraction Syndrome
Preauricular skin tag, Webbed neck, Irregular hyperpigmentation, Optic disc hypoplasia, Hypopigme... ORPHA:233
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Splenomegaly, Joint swelling, Arthropathy, Hyperpigmentation of the skin, Genera... ORPHA:465508
Velocardiofacial Syndrome
Retinal vascular tortuosity, Impaired T cell function, Cryptorchidism, Hypoparathyroidism, Unilat... OMIM:192430
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Schistocytosis, Thrombo... OMIM:274150
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides, Cerebral cortical atrophy OMIM:105830
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Preauricular skin tag, Cerebral cortical atrophy, Hypopigmentation of the ... ORPHA:177907
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment ... OMIM:609136
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypopigmented skin patches, Fine hair, Dry skin, Joint hypermobility, Multiple cafe-au-lait spots... ORPHA:2637
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Hypochromic microcytic anemia, Arthritis OMIM:619423
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnorm... OMIM:619991
Dubowitz Syndrome
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Dry skin, Cryptorchidism, Hypo... ORPHA:235
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Redundant neck skin OMIM:217980
Presynaptic Congenital Myasthenic Syndromes
Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde... ORPHA:98914
Congenital Myasthenic Syndrome
Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde... ORPHA:590
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Recurrent lower respiratory tract infections, Apnea, Hypopnea OMIM:618426
Cocaine Intoxication
Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Colitis, Tachypnea, Pneumotho... ORPHA:90068
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Muenke Syndrome
Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Tarsal synostosis, Hyper... ORPHA:53271
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Elevated circulating creatine... ORPHA:565612
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Arthritis ORPHA:397744
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Avascular necrosis of the capital femoral epiphysis,... ORPHA:581
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Unilateral breast hypoplasia OMIM:300968
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Limitation of move... ORPHA:98794
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:620365
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Anemia, Exertional dyspnea OMIM:220110
Neuroleptic Malignant Syndrome
Sepsis, Vomiting, Aspiration pneumonia, Leukocytosis, Hyperhidrosis, Thrombocytopenia, Thrombocyt... ORPHA:94093
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypopigmentation of the skin, Recurrent otitis media, Hepatosplenomegaly, Genu va... OMIM:301066
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Dry skin, Redundant skin, Excessive wrinkled skin, Absent eyelashes... ORPHA:920
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly, Broad long bone diaphyses, Broad metacarpals, Flattened... ORPHA:79255
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... OMIM:606002
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Achondroplasia
Respiratory distress, Recurrent otitis media, Pulmonary hypoplasia OMIM:100800
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Cohen Syndrome
Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Cryptorchidism, Low anterior ... ORPHA:193
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Glycogen Storage Disease Ia
Xanthelasma, Gout, Xanthomatosis, Pancreatitis, Lipemia retinalis, Osteoporosis OMIM:232200
Mosaic Trisomy 8
Hypopigmentation of the skin, Limitation of joint mobility, Hypopigmented skin patches, Camptodac... ORPHA:96061
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Highly arched eyebrow, Decreased circulating IgA level, Decrease... OMIM:617062
Craniolenticulosutural Dysplasia
Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars... ORPHA:50814
Hartnup Disease
Skin rash, Irregular hyperpigmentation, Hypopigmented skin patches, Infectious encephalitis ORPHA:2116
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Distal upper limb muscle weakness, Elbow flexion contracture, Gastropare... ORPHA:70
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis OMIM:238600
Pachyonychia Congenita
Respiratory distress, Angular cheilitis ORPHA:2309
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Respiratory distress, Pancytopenia, Acute myeloid leukemia, Neutrope... OMIM:260400
Acrofrontofacionasal Dysostosis
Cerebral cortical atrophy, Hypopigmented skin patches, Camptodactyly of finger, Anonychia, Aplasi... ORPHA:1784
Cholera
Hyperventilation, Tachypnea, Palmoplantar cutis laxa, Aspiration pneumonia ORPHA:173
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Familial Tumoral Calcinosis
Erythema, Hypopigmented skin patches, Skin rash, Periarticular subcutaneous nodules, Splenomegaly... ORPHA:53715
Glucagonoma
Pituitary adenoma, Stomatitis, Increased circulating prolactin concentration, Increased circulati... ORPHA:97280
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia OMIM:613848
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory tract infection ORPHA:308552
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Dermal translucency, Repeated pneumothoraces, Pulmonary hypopl... ORPHA:536467
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia OMIM:613309
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Redundant skin, Arthro... OMIM:259100
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Ruvalcaba Syndrome
Synostosis of carpal bones, Hypopigmented skin patches, Cryptorchidism, Generalized hirsutism, Ab... ORPHA:3121
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Micronodular cirrhosis, Hepatic steatosis, Hepatomegaly, Abnormal granulocyte morphology ORPHA:98907
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Nevus, Chorioretinal coloboma, Neurodegeneration, Osteomyelitis, Me... OMIM:619475
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Relapsing Polychondritis
Erythema, Uveitis, Alopecia, Keratitis, Hepatitis, Atelectasis, Limitation of joint mobility, Rec... ORPHA:728
Pearson Syndrome
Bone marrow hypocellularity, Pigmentary retinopathy, Exocrine pancreatic insufficiency, Decreased... ORPHA:699
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Female infertility, Lymphedema, Abnormality of the ovary, Re... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Female infertility, Lymphedema, Abnormality of the ovary, Re... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Female infertility, Lymphedema, Abnormality of the ovary, Re... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Female infertility, Lymphedema, Abnormality of the ovary, Re... ORPHA:881
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te... OMIM:129900
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Increased susceptibility to fr... OMIM:256810
Mandibuloacral Dysplasia
Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail ORPHA:2457
Down Syndrome
Gastroesophageal reflux, Polycythemia, Sandal gap, Clinodactyly of the 5th finger, Bilateral sing... ORPHA:870
Erdheim-Chester Disease
Osteomyelitis, Pleural effusion, Skin rash, Joint swelling, Hypogonadotropic hypogonadism, Pulmon... ORPHA:35687
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Abnormality of humoral immunity, Abnormality of the ankle, Painless fr... ORPHA:642
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Pneumonia, Exertional dyspnea, Anomalous pulmonary venous return ORPHA:99104
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination, Failure to thrive ORPHA:442835
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax OMIM:620278
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pulmonary edema, Apnea, Pleural effusion OMIM:261740
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Autosomal Recessive Malignant Osteopetrosis
Otitis media, Splenomegaly, Chronic rhinitis, Bowing of the long bones, Pulmonary artery stenosis... ORPHA:667
Hurler Syndrome
Thick eyebrow, Splenomegaly, Generalized hirsutism, Abnormality of the tonsils, Abnormality of sk... ORPHA:93473
Rodrigues Blindness
Nasal flaring OMIM:268320
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Cerebral atrophy, Myositis, Abnormal inflammatory respon... ORPHA:1320
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular hypertrophy, Aspiration pneumonia OMIM:619167
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Cholelithiasis, Recurrent pneumonia, Parathyroid... OMIM:188400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism ORPHA:1555
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism, Splenic cyst, Ovarian cyst OMIM:618188
Polymyositis
Chondrocalcinosis, Autoimmunity, Arthritis, Abnormal pulmonary interstitial morphology, Pulmonary... ORPHA:732
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Preauricular pit, Osteopetrosis, Generalized hypopigmentation, Iris transillumination defect, Inc... OMIM:617306
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... ORPHA:163746
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Redundant neck skin OMIM:123790
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Pall... ORPHA:99125
Leptospirosis
Uveitis, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Skin rash, Opti... ORPHA:509
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Neonatal... OMIM:263200
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema, Gastritis, Tachy... ORPHA:31826
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches, Joint stiffness, Genu valgum, Aplastic/hypoplastic toenail, Synophrys ORPHA:1295
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Hypoventilation, Aspiration pneumonia OMIM:619482
Simpson-Golabi-Behmel Syndrome
Small nail, Polysplenia, Supernumerary nipple, Increased circulating IgE level, Splenomegaly, Pan... ORPHA:373
Fabry Disease
Optic atrophy, Emphysema, Arthritis, Anemia, Subcutaneous nodule, Reduced bone mineral density ORPHA:324
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, White forelock,... OMIM:613266
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory distress, Respiratory tract infection, Exertional dyspnea, Orthopnea ORPHA:365
Colchicine Poisoning
Respiratory distress, Leukocytosis, Myocarditis ORPHA:31824
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Chronic constipation, Aspiration pneumonia OMIM:616430
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Pallor ORPHA:2131
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection... OMIM:614748
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou... ORPHA:29207
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Mismatch Repair Cancer Syndrome 1
Leukemia, Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling OMIM:276300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Gastroesophageal reflux, Recurrent respiratory infections, Rhizomelic arm shortening, Proximal fe... ORPHA:397715
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea ORPHA:17
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia, Chronic constipation OMIM:300472
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Inflammatory abnormality of the skin OMIM:610768
Harrod Syndrome
Cerebral cortical atrophy, Hypopigmented skin patches, Cryptorchidism, Joint hypermobility ORPHA:2115
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Meier-Gorlin Syndrome 6
Failure to thrive, Emphysema, Recurrent respiratory infections, Delayed myelination, Small for ge... OMIM:616835
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Pneumonia ORPHA:99103
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... ORPHA:567983
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Tuberous Sclerosis Complex
Pituitary adenoma, Respiratory distress, Pheochromocytoma, Pulmonary lymphangiomyomatosis, Respir... ORPHA:805
Meier-Gorlin Syndrome 1
Respiratory distress, Breast hypoplasia, Emphysema, Cryptorchidism OMIM:224690
Alkaptonuria
Irregular hyperpigmentation, Joint dislocation, Joint stiffness, Black pigment gallstones, Increa... ORPHA:56
Vertical Talus, Congenital
Arthritis OMIM:192950
Bickerstaff Brainstem Encephalitis
Pneumonia, Autoimmune antibody positivity, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Aicardi-Goutières Syndrome
Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Increased circulating interfe... ORPHA:51
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea ORPHA:100050
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Genu valgum, Frontal upsweep o... OMIM:176270
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Hydrocephalus,... ORPHA:538
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the ankle, Sacroiliac arthritis, Abnormal hip joint morphology... ORPHA:85438
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Ramos-Arroyo Syndrome
Respiratory distress, Keratitis ORPHA:1051
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive OMIM:613804
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Cryptorchidism ORPHA:404448
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te... OMIM:604292
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Aortic Aneurysm, Familial Thoracic 12
Spontaneous pneumothorax, Arthritis OMIM:619825
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Arboleda-Tham Syndrome
Recurrent respiratory infections, Bilateral cryptorchidism, Respiratory distress, Recurrent otiti... OMIM:616268
Schinzel-Giedion Syndrome
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Streak ovary, Myeloid leukemia, Mi... ORPHA:798
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Stomatitis ORPHA:79282
Marshall-Smith Syndrome
Slender finger, Recurrent upper respiratory tract infections, Short distal phalanx of finger, Pro... OMIM:602535
Niemann-Pick Disease Type C
Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splen... ORPHA:646
Cockayne Syndrome A
Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Dry skin, Splenomegaly, Th... OMIM:216400
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Splenomegaly, Gliosis, Recurrent respiratory infections, Abnormal myelination,... ORPHA:404454
Glycogen Storage Disease Ic
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Cyclic neutrop... OMIM:232240
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Polysplenia, Respiratory distress, Bilateral trilobed lu... OMIM:306955
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia, Constipation, Anhidrosis, Decreased swe... ORPHA:99027
Fanconi Anemia
Irregular hyperpigmentation, Hypopigmented skin patches, Leukopenia, Cryptorchidism, Aganglionic ... ORPHA:84
Pitt-Hopkins Syndrome
Hypopigmented skin patches, Supernumerary nipple, Esophagitis, Cryptorchidism, Aganglionic megacolon ORPHA:2896
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Sotos Syndrome
Small cell lung carcinoma, Ankle flexion contracture, Hypopigmentation of the skin, Small nail, C... ORPHA:821
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Aortopulmonary window ORPHA:2299
Proteus Syndrome
Pulmonary cyst, Generalized hirsutism, Pulmonary bulla, Abnormality of the nail, Enlarged polycys... ORPHA:744
Coffin-Siris Syndrome
Short 5th finger, Recurrent upper respiratory tract infections, Clinodactyly, Aspiration pneumoni... ORPHA:1465
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress ORPHA:255210
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Cryptorchidism, Breast aplasia ORPHA:2554
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a... OMIM:274000
Tay-Sachs Disease
Limited elbow extension, Distal upper limb muscle weakness, Dysphagia, Aspiration pneumonia ORPHA:845
Tetrasomy 9P
Pulmonary hypoplasia, Joint dislocation, Systemic lupus erythematosus, Sacral dimple, Glue ear, C... ORPHA:3310
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Sparse eyebrow, Alopecia, Small nail, Premature skin wrinkling, Dry skin, Alopecia of ... OMIM:264090
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Shoulder girdle muscle weakness, Elbow flexion contracture, Talipes equinov... ORPHA:2020
Campomelic Dysplasia
Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t... OMIM:114290
Tetragametic Chimerism
Hypopigmented skin patches, Abnormality of the ovary, Blood group antigen abnormality, Cryptorchi... ORPHA:199310
Rubinstein-Taybi Syndrome 1
Accessory spleen, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Respira... OMIM:180849
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Impaired T cell function, Abnormal joint morphology, Allergic conjunctivitis, ... OMIM:176690
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Recurrent respiratory infections, Gout, Arthritis ORPHA:411543
Gitelman Syndrome
Respiratory distress, Gout, Hashimoto thyroiditis, Iron deficiency anemia, Parathyroid adenoma, T... ORPHA:358
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Broad distal phalanx of finger, Gastroesophageal reflux, Broad thumb, Broad hallux, Re... ORPHA:353281
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Splenomegaly, Astrocytosis, Polycythemia ORPHA:309854
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Blepharitis, Small hand, Proportio... ORPHA:280633
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Respiratory distress, Aplasia/Hypoplasia of t... ORPHA:2255
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Isolated Arrhinia
Respiratory distress ORPHA:1134
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Broad distal phalanx of finger, Gastroesophageal reflux, Broad thumb, Broad hallux, Ab... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Broad distal phalanx of finger, Gastroesophageal reflux, Broad thumb, Broad hallux, Ab... ORPHA:353277
Kabuki Syndrome 1
Recurrent infections, Short 5th finger, Prominent fingertip pads, Recurrent otitis media, Congeni... OMIM:147920
Ellis Van Creveld Syndrome
Emphysema, Acute leukemia, Failure to thrive, Aplasia/Hypoplasia of the lungs ORPHA:289
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Sparse eyebrow, Emphysema, Secretory IgA deficiency, Absent gall... ORPHA:500150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hepatosplenomegaly, Decreased circulating antibody level ORPHA:247598
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Emphysema, Slender build, Pancytopenia, Anemia, Abnormal pulmonary interstitia... OMIM:613658
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Tooth abscess, Ge... ORPHA:89936
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Gastroesophageal reflux, Aspiration pneumonia, ... ORPHA:79500
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress OMIM:617156
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Ectopic thyroid ORPHA:3206
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Eisenmenger Syndrome
Bacterial endocarditis, Increased mean corpuscular volume, Respiratory distress, Aortopulmonary w... ORPHA:97214
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Abnormal lung lobation ORPHA:508488
Oculopharyngodistal Myopathy 1
Respiratory distress OMIM:164310
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... OMIM:203500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone s... ORPHA:444077
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Cryptorchidism, Pulmonary hypoplasia ORPHA:3404
Pallister-Killian Syndrome
Hyperpigmented streaks, Congenital hip dislocation, Sparse eyebrow, Hypopigmentation of the skin,... OMIM:601803
Mosaic Trisomy 20
Cryptorchidism, Limited pronation/supination of forearm, Hypopigmented streaks, Vertebral fusion,... ORPHA:1724
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Cockayne Syndrome Type 3
Abnormal myelination, Astrocytosis, Splenomegaly, Demyelinating peripheral neuropathy ORPHA:90324
Semilobar Holoprosencephaly
Abnormal pattern of respiration, Aspiration pneumonia, Decreased response to growth hormone stimu... ORPHA:220386
Alobar Holoprosencephaly
Abnormal pattern of respiration, Aspiration pneumonia, Decreased response to growth hormone stimu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal pattern of respiration, Aspiration pneumonia, Decreased response to growth hormone stimu... ORPHA:93926
Lobar Holoprosencephaly
Abnormal pattern of respiration, Aspiration pneumonia, Decreased response to growth hormone stimu... ORPHA:93924
Cowden Syndrome
Hypopigmented skin patches, Goiter, Melanocytic nevus, Enlarged polycystic ovaries, Multiple cafe... ORPHA:201
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Pmm2-Cdg
Hypoalbuminemia, Anasarca, Increased circulating prolactin concentration, Lymphedema, Aspiration ... ORPHA:79318
Marfan Syndrome
Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender build, Cachexia, Mening... ORPHA:558
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Fontaine Progeroid Syndrome
Absent nipple, Premature skin wrinkling, Redundant skin, Cryptorchidism, Hypoplastic nipples, Pne... OMIM:612289
Choreoacanthocytosis
Cerebral cortical atrophy, Decreased amplitude of sensory action potentials, Acanthocytosis, Sple... ORPHA:2388
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Splenomegaly OMIM:617088
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring ORPHA:466943
Neonatal Marfan Syndrome
Emphysema, Small for gestational age ORPHA:284979
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Dry skin, Recurrent pneumonia, Acute myelomonocytic leukemia ORPHA:99646
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy ORPHA:466768
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Hypoplastic nipples, Recurrent upper and lo... ORPHA:480880
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Neonatal death, Spina bifida OMIM:614437
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Enlarged ovaries, Dysphagia ORPHA:2745
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Increased circulating prolactin concentration, Aspiration pneumonia, Apnea, Cryptorchidism, Hypov... ORPHA:438213
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Multiple Osteochondromas
Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Hemothorax, Pneu... ORPHA:321
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Yunis-Varon Syndrome
Toe syndactyly, Clinodactyly, Aspiration pneumonia, Bilateral single transverse palmar creases, T... OMIM:216340
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Arthritis, Joint hypermobility ORPHA:93111
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Aspartylglucosaminuria
Joint stiffness, Splenomegaly, Macroorchidism, Arthritis, Recurrent respiratory infections, Chron... ORPHA:93
Alström Syndrome
Testicular fibrosis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Hepatitis... ORPHA:64
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis, Onychogryposis OMIM:161700
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Keratoconjunctivitis, Nail dysplasia, Keratoconjunctivitis sicca, Arthritis, Lacr... ORPHA:2363
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Abnormal myelination ORPHA:434179
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pancreatic calcification ORPHA:51608
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ptpn6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptpn6.

No publications found that use IMPC mice or data for Ptpn6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptpn6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptpn6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ptpn6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ptpn6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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