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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, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... 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
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Hepatomegaly, Autoimmunity, Aut... OMIM:614470
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... ORPHA:397596
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract in... OMIM:616005
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... OMIM:608971
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... OMIM:605258
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect... OMIM:608106
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating I... ORPHA:169154
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:98813
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... OMIM:619773
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... ORPHA:277
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, He... OMIM:308230
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Elevated circulating C-reactive protein ... ORPHA:324964
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
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 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia... OMIM:618495
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Antinuc... OMIM:618048
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatiti... ORPHA:169160
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Recurrent respiratory infections, Antiphospholipid antibody positi... OMIM:615934
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Neutropenia, Chronic Familial
Clubbing, Clubbing of fingers, Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloi... ORPHA:37042
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ... OMIM:618394
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, T lymphocytopenia, Ar... OMIM:601457
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarr... OMIM:240500
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis,... OMIM:616871
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Generalized hypopigmentation... ORPHA:79433
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au... ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin... ORPHA:2584
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir... ORPHA:48104
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Vitiligo, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand... ORPHA:275
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Whim Syndrome 1
Recurrent upper respiratory tract infections, Abnormal morphology of female internal genitalia, B... OMIM:193670
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough ORPHA:64741
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Rec... OMIM:615285
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Sepsis, T lymphocytopenia, Leukopenia, Neutropenia, D... OMIM:618986
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Papular Xanthoma
Histiocytosis ORPHA:158008
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Re... OMIM:604571
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... OMIM:615767
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Chronic diarrhea, Increased circulating IgE level, Atopic dermat... OMIM:617638
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... 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
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Sapho Syndrome
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Recurrent ... ORPHA:793
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Subcutaneous nodule, Neutr... ORPHA:228119
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... ORPHA:3261
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe... OMIM:615816
Prolidase Deficiency
Abnormality of retinal pigmentation, Recurrent respiratory infections, Aplasia/Hypoplasia of the ... ORPHA:742
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Hyperpigmentation of the skin, Skin ulcer, Interstitial pne... ORPHA:454831
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Osteoporosis, Nail pits, Retic... OMIM:127550
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren... OMIM:619752
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Hypermelanotic macule, Autoimmune ... OMIM:607944
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... ORPHA:572
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Neuroectodermal Melanolysosomal Disease
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Optic ... ORPHA:33445
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Cough, Dyspnea, Hepatitis, Thyroiditis... ORPHA:139402
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, A... ORPHA:99867
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Autoimmunity, Skin ras... ORPHA:47
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... OMIM:616433
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... OMIM:620210
Osteoporosis
Osteoporosis OMIM:166710
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... ORPHA:542592
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint... ORPHA:289390
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c... OMIM:613179
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... OMIM:612444
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Congenital Factor Xii Deficiency
Retinal arteriolar occlusion, Retinal vein occlusion, Penetrating foot ulcers ORPHA:330
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased ci... ORPHA:33355
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Short foot, Periodontitis, Reduction of neutrophil motili... OMIM:266265
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Abnormality of skin pigmentation,... ORPHA:743
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Hypoplasia of the ulna, Lung a... OMIM:241600
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Boutonneuse Fever
Abnormal skin morphology of the palm, Maculopapular exanthema, Skin rash, Cervical lymphadenopath... ORPHA:83313
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Abnormality of retinal pigmentation, Skin ulcer ORPHA:1117
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Takayasu Arteritis
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Arthritis, Retinopathy, Pulmona... ORPHA:3287
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... ORPHA:158061
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidia... OMIM:301078
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating antibody lev... ORPHA:48377
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepa... OMIM:619644
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Autoimmun... ORPHA:555905
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil... ORPHA:464370
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Partial IgA deficiency, Acute otitis media, T lymphocytopenia, Decrea... ORPHA:35078
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Trichothiodystrophy 3, Photosensitive
Brittle hair, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neu... OMIM:616395
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... ORPHA:231
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased ci... OMIM:618523
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Lymphad... ORPHA:507
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... ORPHA:100026
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... OMIM:603554
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ... ORPHA:79397
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... OMIM:616740
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Zika Virus Disease
Maculopapular exanthema, Skin rash, Edema, Pruritus, Increased circulating IgM level, Arthritis, ... ORPHA:448237
Psoriasis 14, Pustular
Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust... OMIM:614204
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease... OMIM:601495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, T lymphocytopenia, Increased circulating IgM leve... OMIM:242860
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:620296
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform der... OMIM:606367
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus erythematosus, Increase... ORPHA:411593
Omenn Syndrome
Hepatomegaly, Autoimmunity, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea... ORPHA:39041
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Recurrent bronchopulmonary infectio... OMIM:617303
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Lymphaden... OMIM:618935
Immunodeficiency 22
Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Diarrhea, Recurrent upper r... OMIM:615758
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Autoimmunity, Eczema, Crackles, Respiratory tract infection,... ORPHA:79128
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin OMIM:302000
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... OMIM:615387
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema ORPHA:345
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Autoimmunity, Pneumonia, Recurrent viral infections, ... ORPHA:169090
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Splenomegaly, Cough, Abnormal pattern of ... ORPHA:77260
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Osteoporosis, Pallor, Hypopigmen... ORPHA:2786
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Abnor... ORPHA:206572
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... OMIM:300291
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Pyoderma gangre... OMIM:604416
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, Dry skin OMIM:106750
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenop... OMIM:234810
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Recurrent fractures, Ecze... ORPHA:2314
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... ORPHA:3392
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, An... ORPHA:2137
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... OMIM:147060
Simple Cryoglobulinemia
Viral hepatitis, Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal ... ORPHA:91139
Incontinentia Pigmenti
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ... ORPHA:464
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Thrombocytopenia, Subc... ORPHA:158029
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Skin ulcer, Abnormal autonomic ner... ORPHA:139578
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Leukocytosis, Skin ulc... OMIM:615688
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopathy, Joint swe... ORPHA:85414
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Prolidase Deficiency
Chronic lung disease, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting eryth... OMIM:170100
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Livedoid Vasculopathy
Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate, Recurrent ski... ORPHA:542643
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... ORPHA:69126
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... ORPHA:1855
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Obesity Due To Congenital Leptin Deficiency
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... ORPHA:66628
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... OMIM:615577
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib... OMIM:608710
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema OMIM:617443
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Psoriasis 2
Psoriasiform dermatitis OMIM:602723
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Anticardiolipin IgG antibody positivity, Pulmonary embolism... ORPHA:464343
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... OMIM:106300
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, ... ORPHA:3162
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Flynn-Aird Syndrome
Alopecia, Joint stiffness, Skin ulcer, Dermal atrophy, Rod-cone dystrophy, Cerebral cortical atrophy ORPHA:2047
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Chilblain Lupus 1
Antinuclear antibody positivity, Abnormality of the nail, Chilblains, Skin ulcer OMIM:610448
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... OMIM:616414
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukop... ORPHA:1304
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia ORPHA:100024
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Erythema, Rheumatoid arthritis,... ORPHA:79099
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on the sur... OMIM:301000
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... ORPHA:179494
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... OMIM:615561
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Increased circulating IgM level, Antinuclear a... ORPHA:562639
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi... ORPHA:2902
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm... ORPHA:89838
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... OMIM:209920
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Skin rash, Edema, Increased circulating ferritin concentration, Thrombocyto... OMIM:603552
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Edema, Pedal edema, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness, Skin rash, Pruritus, Ir... ORPHA:85436
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... ORPHA:1302
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Acrogeria
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Joint hyperflexib... ORPHA:2500
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Piebald Trait
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... OMIM:172800
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Abnormal hair ... ORPHA:2028
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Mediastinal lymphadenopathy, Pneumothorax, Splenomegaly, Bronchiectasi... OMIM:612387
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Recurrent otitis media, Respiratory distress OMIM:615993
Aplasia Cutis Congenita
Facial palsy, Skin ulcer, Congenital localized absence of skin, Abnormality of bone mineral densi... ORPHA:1114
Succinic Acidemia
Respiratory distress OMIM:600335
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Anti-acetylcholine receptor antibody ... ORPHA:589
Blau Syndrome
Posterior uveitis, Abnormal optic nerve morphology, Abnormal salivary gland morphology, Papule, F... ORPHA:90340
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Pneumonia, Decreased circulating complement factor B concentration, I... ORPHA:2298
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leuk... OMIM:614171
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Anonychia With Flexural Pigmentation
Macular telangiectasia, Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyper... ORPHA:69125
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... ORPHA:36238
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... ORPHA:79124
Uv-Sensitive Syndrome 1
Freckling, Dry skin, Pigmentation anomalies of sun-exposed skin OMIM:600630
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Increased circulating IgG level, Increased hemato... ORPHA:284227
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Mercury Poisoning
Respiratory distress, Dyspnea, Hypokalemia, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumonia, Dehydration, Recur... OMIM:616069
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis ORPHA:525
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Aplasia/Hypoplasia of the sk... ORPHA:902
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Purpura ORPHA:343
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Autoimmunity, Hypopigmented skin patches, Skin ulcer, Abnormality of skin... ORPHA:220402
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Morbilliform ra... ORPHA:228123
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
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
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal fingernail morpho... ORPHA:75564
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chorioretinal dysplasia, Subcutaneous nodule, Abnormal optic nerve morphology, Scaling skin, Reti... ORPHA:2526
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, R... OMIM:617591
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Decreased ... OMIM:610978
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Skin vesicle, ... ORPHA:218
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Abnormality of the thyroid gland, Fa... ORPHA:449432
Lassa Fever
Menometrorrhagia, Facial edema, Dyspnea, Increased circulating IgM level, Conjunctivitis, Cough ORPHA:99824
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Decreased circulating antibody level ORPHA:2572
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Neuropathic arthropathy, Penetrating foot ulcers, Skin ulcer, Cough, Abnormality o... ORPHA:36386
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, ... OMIM:612541
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Recurrent skin infections, Eczema, A... OMIM:256500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Facial palsy, Salivary gland neoplasm, Skin-colored papule, Skin nodule,... ORPHA:79493
Roifman Syndrome
Hip contracture, Retinal dystrophy, Eczema, Eosinophilia, Hyperconvex nail, Delayed proximal femo... ORPHA:353298
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613807
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli... OMIM:306400
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hypothyr... OMIM:304790
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased ci... OMIM:613496
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Familial Multiple Nevi Flammei
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Nevus flammeus, Irregular hyperpigmentatio... ORPHA:624
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Q Fever
Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,... ORPHA:781
Uv-Sensitive Syndrome 3
Freckling, Dry skin OMIM:614640
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Melanocytic nevus, Skin ulcer, ... ORPHA:978
Drug-Induced Localized Lipodystrophy
Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Neoplasm of the lung, S... ORPHA:142
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Candidiasis, Familial, 1
Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Psoriasiform dermatitis, Decreased circulating antibody level, Decreased circulating ... ORPHA:221139
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Skin ulcer, Re... ORPHA:848
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Scaling skin, Nail dyst... OMIM:270300
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... ORPHA:49041
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Ocular albinism, Skin ulcer, Generalized hypopigment... ORPHA:352723
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613808
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Chronic Granulomatous Disease
Macule, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Hypermelanotic macule... ORPHA:379
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Splenomegaly, Skin ulcer, Reduced bone mineral density, Abnorma... ORPHA:834
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair OMIM:113750
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Autoimmunity, Respiratory insufficiency, Arthritis, Cough, Anemia, Purpura ORPHA:375
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Decreased circulating IgA level OMIM:137100
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Papule, Chronic pulmonary o... ORPHA:900
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Nevus, Al... ORPHA:79435
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Adult-Onset Still Disease
Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Elevated circulating C-reacti... ORPHA:829
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Diabetes mellitu... ORPHA:79147
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Hashimoto thyr... ORPHA:97285
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Hepatitis,... ORPHA:1163
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Ramon Syndrome
Optic disc pallor, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hypertrichosis OMIM:266270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ul... ORPHA:1657
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Erythema migrans, Skin vesicle, Spotty... ORPHA:158681
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Dry skin, Hypomelanotic macule, Nail dystrophy, Scaling skin, Fr... OMIM:618373
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin ORPHA:46487
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Giant Cell Arteritis
Pericarditis, Alopecia, Epistaxis, Abnormal pleura morphology, Joint stiffness, Mediastinal lymph... ORPHA:397
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, Sk... ORPHA:1775
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Babesiosis
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Recurrent ph... ORPHA:108
Microlissencephaly
Pneumonia ORPHA:1083
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Abnormality of retinal pigmentation, Thick hair, Patent ductus ... ORPHA:505248
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Chediak-Higashi Syndrome
Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, ... OMIM:214500
Ollier Disease
Joint stiffness, Subcutaneous nodule, Osteolysis, Skin ulcer, Anemia ORPHA:296
Hyperzincemia With Functional Zinc Depletion
Skin rash, Increased serum zinc, Osteoporosis OMIM:601979
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Bloom Syndrome
Bronchitis, Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigmentation ... ORPHA:125
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Interm... OMIM:186580
H Syndrome
Psoriasiform dermatitis, Hypertriglyceridemia, Recurrent fractures, Bronchiectasis, Osteolysis, C... ORPHA:168569
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal ... ORPHA:79078
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Cryoglobulinemic Vasculitis
Viral hepatitis, Circulating immune complexes, Mediastinal lymphadenopathy, Splenomegaly, Skin ul... ORPHA:91138
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Respira... OMIM:609981
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,... OMIM:617744
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Generalized hirsutism, Skin ulcer ORPHA:2218
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Eczema, Increased circulating IgE level, Thyroiditi... OMIM:618985
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepat... ORPHA:39812
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Pneumonia, Abnormal myelina... ORPHA:85179
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... ORPHA:319218
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... ORPHA:454836
Cushing Disease
Lymphopenia, Sparse scalp hair, Adrenal hyperplasia, Acne, Hyperpigmentation of the skin, Pituita... ORPHA:96253
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Vici Syndrome
Abnormality of retinal pigmentation, Recurrent respiratory infections, Joint stiffness, Decreased... ORPHA:1493
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary arterial hype... ORPHA:2414
Acquired Partial Lipodystrophy
Autoimmunity, Decreased circulating complement C3 concentration, Lymphocytosis, Hepatic steatosis... ORPHA:79087
Specific Granule Deficiency 2
Absent neutrophil specific granules, Sandal gap, Recurrent pneumonia, Sepsis, Anemia, Recurrent b... OMIM:617475
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... ORPHA:210136
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa va... OMIM:602271
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Macule, Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology ORPHA:2571
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Epistaxis, Albinism, Impaired ADP-induced platelet aggregation, Ocu... OMIM:614075
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Abnormal myelination ORPHA:401830
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
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
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Perching Syndrome
Respiratory distress OMIM:617055
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... OMIM:616050
Cinca Syndrome
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomeg... OMIM:607115
Roifman Syndrome
Hepatomegaly, Short metacarpal, Eczema, Eosinophilia, Single transverse palmar crease, Splenomega... OMIM:616651
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Subcutaneous nodule, Limitation of joint mobi... ORPHA:2591
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Mono... ORPHA:33226
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis, Recurrent infections ORPHA:477814
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Abnormal myelination ORPHA:401820
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiecta... OMIM:615207
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunoglobulin A Vasculitis
Episcleritis, Macule, Skin rash, Orchitis, Pustule, Erythema, Optic atrophy, Skin ulcer, Arthriti... ORPHA:761
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease... ORPHA:293978
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Mediastinal lymphadenopathy, Anemia, Decreased ... OMIM:614742
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Enterocolitis, Decreased circulating antibody level, Agammaglobulinemia,... OMIM:243150
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Vomiting, Recurren... OMIM:619381
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Pallor OMIM:613561
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism OMIM:300700
Ciliary Dyskinesia, Primary, 37
Female infertility, Rhinorrhea, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Albers-Schönberg Osteopetrosis
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Facial pals... ORPHA:53
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Panniculitis, Hemophagocytosis, Erythematous... ORPHA:86884
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Decreased CD4:CD8 ratio, He... OMIM:608233
Ataxia-Telangiectasia
Recurrent respiratory infections, Hypopigmentation of hair, Abnormal testis morphology, Decreased... ORPHA:100
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... ORPHA:244
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Hereditary Spherocytosis
Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous hemolytic cri... ORPHA:822
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Buerger Disease
Skin ulcer ORPHA:36258
Intermediate Uveitis
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis ORPHA:279914
Ataxia-Telangiectasia
Decreased circulating IgG level, Recurrent bronchitis, Abnormal hair morphology, Decreased circul... OMIM:208900
Beta-Thalassemia Intermedia
Osteopenia, Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia o... ORPHA:231222
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Osteomyelitis, Skin ulcer OMIM:613640
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Eczema, Thrombocytopenia OMIM:619751
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... ORPHA:811
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... ORPHA:167
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Immunodeficiency 77
Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous ab... OMIM:619223
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Congenital Analbuminemia
Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Increased circulating... ORPHA:86816
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Atelis Syndrome 1
Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent inf... OMIM:620184
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash mo... ORPHA:3437
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough ORPHA:99825
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... ORPHA:42642
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Lig4 Syndrome
Psoriasiform dermatitis, Chronic sinusitis OMIM:606593
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Diarrhea, Dyspnea, Uveitis, Ly... ORPHA:36412
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Macular edema, Anemia, Increased circulating IgG level, Increased ... ORPHA:319251
Mogs-Cdg
Hepatomegaly, Alopecia, Pulmonary edema, Fair hair, Cardiomegaly, Hirsutism, Decreased circulatin... ORPHA:79330
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Anticardiolipin IgG antibody positivity, Portal hypertension, Portal... ORPHA:64743
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Familial Melanoma
Abnormal hair morphology, Freckling, Dry skin ORPHA:618
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski... ORPHA:37
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
X-Linked Sideroblastic Anemia
Splenomegaly, Dyspnea, Pallor, Anemia ORPHA:75563
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Chromosome 15Q11.2 Deletion Syndrome
Asthma, Joint contracture, Juvenile rheumatoid arthritis, Elbow contracture OMIM:615656
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... ORPHA:70578
Cystic Echinococcosis
Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Eosinophi... ORPHA:400
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Cutis laxa, Decreas... OMIM:300972
Immunodeficiency 49
Psoriasiform dermatitis OMIM:617237
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Blepharitis ORPHA:294023
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Systemic Sclerosis
Flexion contracture, Acral ulceration, Alopecia, Digital pitting scar, Digital ulcer, Pulmonary f... ORPHA:90291
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Polyarteritis Nodosa
Pericarditis, Abnormal lung morphology, Subcutaneous nodule, Erythema, Skin ulcer, Pleuritis ORPHA:767
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Vici Syndrome
Lymphopenia, Hypopigmentation of hair, Recurrent respiratory infections, Macular atrophy, Albinis... OMIM:242840
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Eosinophilia, Elevated circulating C-reactive protein concentration, ... ORPHA:449563
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... ORPHA:99827
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... ORPHA:634
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Bloom Syndrome
Hepatic steatosis, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract inf... OMIM:210900
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Decreased circulating total IgM, Na... OMIM:620040
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Aplasia/Hypoplasia of the... ORPHA:221
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Prominent fingertip pads, Splenomegaly, Recurrent pneumonia, Clinodactyly of the 5t... OMIM:615637
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Acral ulceration, D... OMIM:162400
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Abnormal fingernail morphology, Skin ulcer, Fine hair, Abnormal... ORPHA:1806
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Choleli... ORPHA:79278
Infantile Sialic Acid Storage Disease
Osteopenia, Splenomegaly, Vacuolated lymphocytes, Cerebral atrophy, Fair hair, Hypopigmentation o... OMIM:269920
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia ORPHA:49566
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Edema, Pruritus, Cholelithiasis OMIM:177000
Japanese Encephalitis
Hyponatremia, Respiratory distress, Irregular respiration, Neutrophilia, Increased circulating Ig... ORPHA:79139
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Mirage Syndrome
Recurrent urinary tract infections, Rocker bottom foot, Radial club hand, Chronic diarrhea, Sepsi... OMIM:617053
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatitis, Bronchiectasi... ORPHA:391487
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Rheumatoid factor positive, Pneumonia, Increased circulating I... ORPHA:48435
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Abnormal fingernail morphology, Erythema, Cheilitis,... ORPHA:1334
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Reynolds Syndrome
Skin rash, Skin ulcer, Respiratory insufficiency, Arthritis, Keratoconjunctivitis sicca, Irregula... ORPHA:779
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology, Abnormal myelination ORPHA:401835
Poems Syndrome
Diabetes mellitus, Edema, Abnormality of the endocrine system, Hypothyroidism, Pericardial effusi... ORPHA:2905
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Hyperpigmentation of the skin, Cryptorchidism, Prolonged G2 phase of... OMIM:227645
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnorm... ORPHA:64744
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp... ORPHA:98826
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Ankylosis, Erythema, Osteolysis, Skin ulcer, Neoplasm o... ORPHA:659
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Chime Syndrome
Erythema, Hip dislocation, Osteolysis, Skin ulcer, Acute leukemia, Fine hair, Retinal coloboma, S... ORPHA:3474
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Epistaxis, Albinism, Ocular a... OMIM:203300
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... ORPHA:99931
Idiopathic Localized Lipodystrophy
Erythema, Hypopigmentation of the skin, Scaling skin, Hyperpigmentation of the skin ORPHA:90158
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Myocarditis, Recurrent pharyngi... ORPHA:549
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Dowling-Degos Disease
Hypopigmented macule, Inguinal freckling, Epidermoid cyst, Hypermelanotic macule, Abnormal finger... ORPHA:79145
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent bronchitis, Retinal pigme... OMIM:251260
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin ORPHA:263534
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia OMIM:225050
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Autoimmunity, Portal hypertension, ... OMIM:613385
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... ORPHA:171442
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... ORPHA:77259
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... ORPHA:567544
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Autoimmunity, Alopecia, Dyspnea, Limitation of joint mobility,... ORPHA:93672
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Edema, Le... ORPHA:2070
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Gemignani Syndrome
Abnormal testis morphology, Hypopigmented skin patches ORPHA:2074
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Hyperpigmentation of the skin, Cryptorchidism, Prolonged G2 phase of... OMIM:600901
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, P... ORPHA:292
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decreased circulating a... OMIM:618165
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Optic atrophy, Uveitis, Arthritis... ORPHA:575
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Anemia, Pannic... OMIM:608068
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Hepatomegaly, Medias... ORPHA:809
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Periodontitis, Chronic otitis media, Osteomalacia, ... ORPHA:534
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Dyspnea, Flexion contracture, Osteolysis, Skin ulcer, Arthritis, Pulmonary fibrosis... ORPHA:220393
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Reduced ... ORPHA:90363
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Skin rash, Generalized edema, Edema, Reduced na... OMIM:603553
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level ORPHA:89843
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplasti... ORPHA:2930
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Kerat... ORPHA:2907
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... OMIM:610539
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... ORPHA:297
Smith-Kingsmore Syndrome
Curly hair, Cryptorchidism, Cafe-au-lait spot, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Recurrent infections, De... ORPHA:329918
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Leprosy
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Epistaxis, Abnormality of the ... ORPHA:548
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Rec... ORPHA:88
Cholestasis-Lymphedema Syndrome
Lymphedema, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Erysipelas OMIM:214900
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bro... ORPHA:420741
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia,... OMIM:227650
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti... OMIM:614576
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Skin ulcer, Lymphadenopathy ORPHA:424019
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Stiff neck, Pneumonia, Facial palsy, Pustule, Respiratory tract infection, Subcutaneou... ORPHA:68
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis OMIM:618795
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive pro... OMIM:612852
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytop... ORPHA:79312
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pulmonary fib... OMIM:615704
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti... OMIM:618278
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Syndromic Diarrhea
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Abnormality of the m... ORPHA:330015
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Abnormality of the spleen, Thrombocy... ORPHA:2072
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Cryptorchidism, Patent ductus arteriosus, Prolonged G2 phase of cell... OMIM:227646
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Sepsis, V... ORPHA:2552
Progressive Osseous Heteroplasia
Macule, Hypermelanotic macule, Osteoarthritis, Limitation of joint mobility, Subcutaneous nodule,... ORPHA:2762
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Impaired platelet aggregati... OMIM:614072
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Pustule, Glucocortocoid-insensitive primary hyperaldosteronism, Whee... ORPHA:171876
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small scrotum, Hypospadias, Edema, Polyhydramnios, Cryptorchidism, Recurren... OMIM:607143
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, Limb ... ORPHA:2204
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Cutis laxa, Hydrocele testis, C... OMIM:605309
Hennekam-Beemer Syndrome
Macule, Generalized hyperpigmentation, Camptodactyly of finger, Pneumonia, Mastocytosis, Subcutan... ORPHA:2135
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce... ORPHA:81
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Stickler Syndrome Type 1
Retinal detachment, Joint hyperflexibility, Osteoarthritis, Abnormal vitreous humor morphology ORPHA:90653
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Erythroderma ORPHA:312
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, An... ORPHA:1046
Chronic Graft Versus Host Disease
Fasciitis, Flexion contracture, Abnormality of skin pigmentation, Cough, Skin vesicle, Alopecia, ... ORPHA:99921
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infe... ORPHA:508542
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis ORPHA:309288
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, M... OMIM:620233
Say-Barber-Miller Syndrome
Patellar hypoplasia, Knee flexion contracture, Abnormal T cell morphology, Macular degeneration, ... ORPHA:3132
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alg12-Cdg
Retinal detachment, Recurrent respiratory infections, Ulnar deviation of the wrist, Redundant ski... ORPHA:79324
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hyperhidrosis,... ORPHA:391
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... ORPHA:99829
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,... OMIM:619750
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... ORPHA:2590
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Toxic Epidermal Necrolysis
Macule, Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough... ORPHA:537
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Skin dimple, Thin skin, Sparse hair, Hypopigmentation of the skin, Aplasia/... ORPHA:261304
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Autoimmunity, Pneumonia, Nodular pattern ... ORPHA:1546
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Subcutan... ORPHA:2176
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropeni... OMIM:618253
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Shigellosis
Acute colitis, Pneumonia, Abscess, Myocarditis, Leukocytosis, Peritonitis, Sepsis, Cholestasis, U... ORPHA:810
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Incontinentia Pigmenti
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... OMIM:308300
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Skin rash, Pruritus, Pruritus on foot, Abnormal circulating interl... ORPHA:69665
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Alopecia, Recurrent skin infections, Hyperpigmentation... ORPHA:79396
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Piebald Trait-Neurologic Defects Syndrome
Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal ey... ORPHA:2885
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis OMIM:614480
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash,... ORPHA:536
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Hypothyroidis... OMIM:620005
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Phenylketonuria
Eczema, Blue irides, Dry skin, Generalized hypopigmentation, Fair hair OMIM:261600
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Cryptorchidism, Fine hair... OMIM:613990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
B4Galt1-Cdg
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Edema, ... ORPHA:79332
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Osteomyelitis, Neuropathic arthropathy, Keratitis, Acral ulceration, Abnormal ... OMIM:256800
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil... ORPHA:247353
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Gout, Anemia, Neutropenia OMIM:617056
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligozoospermia, Decreased circulating total ... OMIM:602668
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis OMIM:105200
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Porphyria Variegata
Hyperpigmentation of the skin, Localized skin lesion, Respiratory paralysis, Abnormal autonomic n... ORPHA:79473
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir... ORPHA:90045
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Anemia, Hepatic fibrosis, Cirrhosis, Hyperpigmentation of the skin OMIM:613313
Cortisone Reductase Deficiency 1
Precocious puberty, Acne, Infertility, Oligomenorrhea OMIM:604931
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema ORPHA:79242
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... ORPHA:1959
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Camptodactyly of finger, Partial albinism, Synophrys, Blue irides, Hypopig... OMIM:148820
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Diarrhea, Dys... ORPHA:3386
Farber Disease
Respiratory distress, Abnormality of the knee, Nodular pattern on pulmonary HRCT, Thrombocytopeni... ORPHA:333
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... OMIM:617052
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Decreased distal sensory nerve action potential, Optic atrophy, Penetrati... ORPHA:99956
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of the hand OMIM:613115
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Skin ulcer, Chronic mucocutaneous candidiasis, Periodontitis, Rectal... OMIM:116920
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Bronchial Neuroendocrine Tumor
Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentrati... ORPHA:97287
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Timothy Syndrome
Pneumonia, Bronchitis, Cardiomegaly, Recurrent infections, Cutaneous syndactyly, Pulmonary arteri... OMIM:601005
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Respiratory insufficiency, Melanocytic nevus, Multiple... ORPHA:207
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Papilledema, Sclerotic cranial sutures, Localized skin lesion, Osteolysi... ORPHA:371428
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... OMIM:613989
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Hajdu-Cheney Syndrome
Osteopenia, Recurrent respiratory infections, Abnormal fingernail morphology, Recurrent fractures... ORPHA:955
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Foot osteomyelitis, Atrophy of the spinal cord, Acral ... OMIM:256840
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Recurr... OMIM:617827
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Abnormal myelination ORPHA:352682
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Thrombocytopenia ORPHA:370924
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Epistaxis, Dyspnea, Ocular albinism, Melanocytic nevu... ORPHA:79430
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Joint dislocation, Multiple joint contractures, ... ORPHA:33364
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Dyspnea,... ORPHA:85443
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Chilblains, Pneu... OMIM:615846
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Diarrhea, Abnormal... ORPHA:99745
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Eosinophilia, Recu... ORPHA:183
Dengue Fever
Skin rash, Epistaxis, Pruritus, Cardiorespiratory arrest, Leukopenia, Ascites, Hypoproteinemia, T... ORPHA:99828
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Eosinophilic Fasciitis
Macule, Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, A... ORPHA:3165
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Edema, Splenomegaly, Recurrent bro... OMIM:604173
Localized Epidermolysis Bullosa Simplex
Mixed hypo- and hyperpigmentation of the skin, Skin plaque, Atrophic scars, Nail dystrophy, Skin ... ORPHA:79400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Hypopigm... ORPHA:95455
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Chronic diarrhea, Cirrhosis, Recurr... OMIM:613489
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Abnormal metaphysis morphology, Abnormal... ORPHA:290
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Thrombocytopenia OMIM:615597
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Increased susceptibility to fractures, Pigmentary retinopathy, Aspiration pneu... ORPHA:216866
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, Atopic dermatitis, Conjun... OMIM:603165
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia ORPHA:464453
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Hy... ORPHA:398063
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... ORPHA:31205
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... OMIM:608654
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Media... ORPHA:199241
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Dry skin, Goiter ORPHA:226313
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Paronychia, Osteolytic defects of the phalanges of the hand,... OMIM:201300
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... ORPHA:542323
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Increased circulating IgE level, Hypogonadism ORPHA:3409
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Anti-thyroid peroxidase antibo... ORPHA:525731
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait spot, Decreased circulating ... ORPHA:457485
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hyp... OMIM:618541
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... OMIM:260400
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Schimke Immunoosseous Dysplasia
Pancytopenia, Hypermelanotic macule, Abnormal immunoglobulin level, Bilateral cryptorchidism, Abn... OMIM:242900
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Rhinitis, Abnormality of the tonsils ORPHA:93476
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pan... ORPHA:284
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Th... OMIM:246400
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Cowden Syndrome 1
Skin tags, Acrokeratosis, Thyroiditis, Angioid streaks of the fundus, Decreased circulating antib... OMIM:158350
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Paronychia, Alopecia of ... OMIM:201100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Leu... ORPHA:32960
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... ORPHA:678
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ... ORPHA:69087
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hashimoto thyroiditis, Hepatitis ORPHA:436252
Alopecia Antibody Deficiency
Recurrent respiratory infections, Abnormal eyelash morphology, Decreased circulating antibody lev... ORPHA:1006
Pontocerebellar Hypoplasia, Type 7
Apnea, Cryptorchidism, Synophrys, Optic atrophy, Cerebral atrophy, Hypopigmentation of the skin, ... OMIM:614969
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Ab... ORPHA:1807
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Anemia, Stridor, Gastroesophageal reflux, Dysphagia, Br... OMIM:230900
Schimke Immuno-Osseous Dysplasia
Hypermelanotic macule, Autoimmunity, Minimal change glomerulonephritis, Impaired T cell function,... ORPHA:1830
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... OMIM:219700
Joubert Syndrome 33
Splenomegaly, Apnea, Syndactyly OMIM:617767
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... ORPHA:90033
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Nonimmune hydrops ... OMIM:212065
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Propionic Acidemia
Pancytopenia, Apnea, Eczema, Thrombocytopenia, Tachypnea, Hyperammonemia, Dehydration, Hyperglyci... OMIM:606054
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Thick eyebrow, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes,... OMIM:248500
Adult Polyglucosan Body Disease
Limitation of joint mobility, Skin ulcer ORPHA:206583
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Recurrent aspiration pneumonia, Intermittent diarrhea OMIM:619971
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... ORPHA:79329
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Localized skin les... ORPHA:707
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level OMIM:614102
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy OMIM:616353
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Hyperhidrosis, ... ORPHA:83317
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... ORPHA:556
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Dry skin, Fine hair, Fragile nails, Nail dystrophy, Small nail, Spar... OMIM:601675
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea, Cholestasis, L... OMIM:615895
Menkes Disease
Joint laxity, Alopecia, Brittle hair, Osteoporosis, Cutis laxa, Sparse hair, Wormian bones, Hypop... OMIM:309400
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Generalized hypopigmentation, Irregular hyperpigmentation, Generaliz... ORPHA:1816
Stickler Syndrome, Type I
Arthropathy, Retinal detachment, Joint stiffness, Osteoarthritis, Arthritis, Vitreoretinopathy, M... OMIM:108300
Localized Scleroderma
Fasciitis, Abnormal skin adnexa morphology, Autoimmunity, Cutaneous sclerotic plaque, Localized s... ORPHA:90289
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Recurrent cutaneous... ORPHA:99889
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatic steatosis, Hirsutism, Decreased circulat... OMIM:613327
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Optic atrophy, Pneumonia OMIM:613328
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Eczema, Lack of skin elasticity ORPHA:79254
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice, Hyper... OMIM:618892
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71526
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... OMIM:224120
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... ORPHA:1930
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... OMIM:158310
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Oral-pharyngeal dysphagia, Respiratory insufficiency due... ORPHA:98897
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly OMIM:300484
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Spotty hypopigmentation, A... ORPHA:1867
Rothmund-Thomson Syndrome
Osteopenia, Aplasia/Hypoplasia of the skin, Skin rash, Aplastic anemia, Sparse eyelashes, Aplasia... ORPHA:2909
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Limb-Mammary Syndrome
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis ORPHA:69085
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, Hypochromi... ORPHA:2720
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin, Abnormality of the spleen, Wheezing, Lymphadenopat... ORPHA:79456
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Pall... ORPHA:3260
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Dry skin, Cutis laxa, Hypertrichosis OMIM:612379
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Craniosynostosis, Optic disc coloboma, Hypopigmented skin patches... ORPHA:1553
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Steatorrhea, Ascites, ... ORPHA:75233
Sarcoidosis
Increased T cell count, Subcutaneous nodule, Abnormal lung morphology, Uveitis, Tubulointerstitia... ORPHA:797
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Purpura ORPHA:745
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair... OMIM:300953
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop... OMIM:616744
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Overlapping... ORPHA:99843
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypo... OMIM:603467
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Fulminant hepati... ORPHA:319213
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Abnormal ery... ORPHA:101330
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Calciphylaxis
Ectopic ossification, Secondary hyperparathyroidism, Skin ulcer ORPHA:280062
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Ocular albinis... OMIM:614077
Lymphatic Malformation 7
Respiratory distress, Chylothorax, Pleural effusion, Anemia, Pulmonary edema OMIM:617300
Wilson Disease
Hepatomegaly, Abnormality of the hand, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Arthr... ORPHA:905
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism, Respiratory insufficiency ORPHA:1145
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Flexion contracture, Low posterior hairline, Cubitus valgus, Hypopigment... ORPHA:261519
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails OMIM:245660
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormal mucoci... ORPHA:90051
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes... OMIM:224230
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... ORPHA:2715
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Unilateral cryptorchidism, Bilateral cryptorchidism OMIM:300219
Scleromyxedema
Abnormality of thyroid physiology, Elevated circulating creatine kinase concentration, Pruritus, ... ORPHA:167635
Relapsing Fever
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocytopenia,... ORPHA:91547
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pleural ... OMIM:235200
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Thyroid dy... ORPHA:209905
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Cough, Infectio... ORPHA:73263
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Splenomegaly OMIM:608799
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... ORPHA:60025
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Chorioretinitis, Patchy alope... OMIM:109650
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Acute Promyelocytic Leukemia
Pancytopenia, Petechiae, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, Anemia, Leuk... ORPHA:520
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Hypopigme... ORPHA:330064
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Xeroderma Pigmentosum
Macule, Alopecia, Hypermelanotic macule, Keratitis, Cryptorchidism, Erythema, Optic atrophy, Hypo... ORPHA:910
Intellectual Developmental Disorder, Autosomal Recessive 78
Cubitus valgus, Asthma, Hypopigmentation of the skin, Optic neuropathy OMIM:620237
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroid peroxid... ORPHA:228426
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Triosephosphate Isomerase Deficiency
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi... OMIM:615512
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Weight loss ORPHA:90003
Pemphigus Erythematosus
Autoimmunity, Focal dermal aplasia/hypoplasia, Antinuclear antibody positivity, Anti-acetylcholin... ORPHA:79480
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, Thromb... OMIM:251000
Hemochromatosis, Type 2A
Splenomegaly, Arthritis, Hyperpigmentation of the skin OMIM:602390
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... OMIM:619858
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Cleft Velum
Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:99772
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Supernumerary nipple, Cryptorchidism, Pulmonary arteri... ORPHA:2519
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetal... ORPHA:77261
Trichohepatoenteric Syndrome 1
Hepatomegaly, Curly hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Abnormality... OMIM:222470
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Cirrhosis, Nail dystrop... OMIM:613987
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... ORPHA:760
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Osteoporo... ORPHA:398079
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymp... ORPHA:3452
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Abnormal... OMIM:617050
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Hypopigmentation of the skin, Hyperpigmen... OMIM:263700
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity OMIM:613988
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmo... OMIM:608013
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Wild Type Abeta2M Amyloidosis
Arthropathy, Arthritis, Decreased nerve conduction velocity, Decreased amplitude of sensory actio... ORPHA:85446
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Dehydration, Le... ORPHA:99826
Familial Benign Copper Deficiency
Acne, Decreased circulating copper concentration, Anemia ORPHA:1551
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Chromomycosis
Erythematous macule, Keratitis, Ankylosis, Abnormal lung morphology, Subcutaneous nodule, Verruco... ORPHA:182
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Eczema, Ulnar deviation of the wrist, Asthma, 2-3 toe syndactyly, ... OMIM:618162
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Hypopnea, Leukopenia, Microan... ORPHA:2330
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Abnormality of skin pigmentation, Nail dystrophy, Anonychia,... ORPHA:79411
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia... ORPHA:221016
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Pulmonary hypoplasia... ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Recurrent fractures, Optic atrophy, Cerebral atrophy, Decreased circulating anti... OMIM:606056
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Eczema, Elevated circulating creatine kinase concen... ORPHA:314389
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Alg3-Cdg
Osteopenia, Subcortical cerebral atrophy, Pulmonary hypoplasia, Brain atrophy, Arthrogryposis mul... ORPHA:79321
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Testicular atrophy OMIM:160900
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... ORPHA:894
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Genu valgum, Chronic otiti... ORPHA:583
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Gaucher Disease
Osteopenia, Joint dislocation, Osteoarthritis, Abnormality of skin pigmentation, Cherry red spot ... ORPHA:355
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormality of skin pigmentation, Abnormal hair morphology, Lack of sk... ORPHA:1979
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Petechiae OMIM:611490
Opsismodysplasia
Hepatomegaly, Recurrent respiratory infections, Tapered finger, Splenomegaly, Respiratory insuffi... ORPHA:2746
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Secretory diarrhea, Bloody diarrhea, Vomiting,... ORPHA:544482
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Redundant skin, Respiratory failure, Palmoplantar cutis laxa... OMIM:616482
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Skin rash, Palpebral edema, Elevated circulating C-reactive protein ... ORPHA:50918
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundic... OMIM:613471
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections OMIM:252920
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ... ORPHA:1969
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Piebaldism
Macule, Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophry... ORPHA:2884
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormo... ORPHA:2796
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Abnormal pu... ORPHA:206569
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Elevated circulating creatine kinase ... ORPHA:26793
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Chops Syndrome
Curly hair, Chronic lung disease, Thick hair, Cryptorchidism, Splenomegaly, Synophrys, Optic atro... OMIM:616368
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Failure to thrive, Gliosis, Abnormal myelination ORPHA:280210
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cutis laxa, Abnormality of skin pigmentation ORPHA:75496
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling, Mott... ORPHA:1525
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Recurrent bacterial infection... OMIM:232220
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atr... OMIM:619321
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Synop... OMIM:606003
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio... ORPHA:90794
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Inspiratory stridor, Irregular respiration OMIM:604377
Estrogen Resistance
Increased circulating osteocalcin level, Acne, Hyperinsulinemia, Increased serum estradiol, Prima... OMIM:615363
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Diffuse cerebral atrophy, Superficial dermal perivascular inflammatory infi... ORPHA:83617
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Alopecia totalis, Hyperpigmentation of the skin, Cryptorchidism, Pat... ORPHA:221008
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Scarring alopecia of scalp, Leukopenia, Erythroid hyperplasia, Hypopigm... ORPHA:79277
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Hypopigmented skin patches ORPHA:1825
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Femur fracture, Splenomegaly, Flared metaphysis, Coxa ... OMIM:259700
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea ORPHA:90037
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Flexion c... ORPHA:398069
Gapo Syndrome
Skin tags, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypopigmente... ORPHA:2067
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Hepatoerythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Facial hypertrichosis, Scarrin... ORPHA:95159
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal humerus morphology, Pancreatic cysts, Splenomegaly, Abnormal lung morphology,... ORPHA:464329
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal fistula, Recurrent bronch... OMIM:612567
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Slc35A2-Cdg
Osteopenia, Cerebellar atrophy, Limb joint contracture, Camptodactyly of finger, Craniosynostosis... ORPHA:356961
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Neurofibromatosis Type 1
Macule, Abnormality of retinal pigmentation, Abnormal hair quantity, Generalized hyperpigmentatio... ORPHA:636
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Angelman Syndrome
Optic disc pallor, Optic atrophy, Fair hair, Hypopigmentation of the skin, Cerebral cortical atro... ORPHA:72
Rheumatic Fever
Macule, Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Myocarditis, Recurrent ph... ORPHA:3099
Alpha-Mannosidosis
Recurrent respiratory infections, Splenomegaly, Arthritis, Chronic otitis media, Synostosis of jo... ORPHA:61
Behçet Disease
Myositis, Pulmonary embolism, Subcutaneous nodule, Infectious encephalitis, Papule, Acne, Retrobu... ORPHA:117
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... OMIM:258360
Gm1 Gangliosidosis
Recurrent respiratory infections, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Abno... ORPHA:354
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Limitation of joint mobility, Osteoporosis, Hypopigmentation of the skin, Pancreati... OMIM:236200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Splenomeg... ORPHA:131
Marshall Syndrome
Retinal detachment, Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Abnormal vitreous humor mor... ORPHA:560
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Granulocytopenia OMIM:606164
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Single transverse palmar crease, Recurrent infections, Gastroesoph... ORPHA:79243
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level OMIM:226300
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P... ORPHA:90790
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Lichen Planus Pemphigoides
Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail ORPHA:254478
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress... ORPHA:1199
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Xerostomia, Arthritis, Ker... OMIM:617321
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Metatarsus adductus, Splenomegaly, ... ORPHA:584
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, A... OMIM:607765
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Leukocytosis,... ORPHA:340
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... ORPHA:3440
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Mixed-Type Autoimmune Hemolytic Anemia
Exertional dyspnea, Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin ORPHA:90036
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Splenomegaly,... OMIM:607625
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphadenopathy, Oligoa... OMIM:142680
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Diarrhea, Hepatitis, Hematochezia... OMIM:613812
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... ORPHA:785
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Diarrhea, Po... OMIM:602347
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Müllerian Aplasia And Hyperandrogenism
Acne, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal ... ORPHA:247768
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Joint dislocation, Numerous nevi, Sacral dimple, Fair hair, Eczema, Tracheomalacia,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Joint dislocation, Numerous nevi, Sacral dimple, Fair hair, Eczema, Tracheomalacia,... ORPHA:363958
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Cutis laxa, Palmoplantar cutis laxa, Pulmonary arterial hypertensi... ORPHA:363705
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu... ORPHA:568051
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Colitis, Recurrent aphthous stomatitis, Re... OMIM:613960
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... ORPHA:786
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Nevus sebaceous, Recurrent fractures, Linear nevus sebaceous, Nevus, Hypoph... OMIM:163200
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Chilblains, Edema, Pericardial effusion, Hepa... OMIM:619487
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Cryptorchidism, Acute lymphoblastic leukemia, Decreased circu... OMIM:223370
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Craniosynostosis, Sparse eyebrow, Splenomegaly, Limitation of joint mob... OMIM:252500
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe... OMIM:267700
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Hepatosplenomegaly ORPHA:367
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, D... ORPHA:206436
Moebius Syndrome
Respiratory distress, Decreased testicular size OMIM:157900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Cutis laxa, Anemia, Leukopen... OMIM:222700
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Eczema, Elevated circulating creatine kinase concen... ORPHA:79323
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Ectopic os... ORPHA:2485
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Hypopigmented skin patches, Blue irides, Prematu... OMIM:611584
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Autoimmunity, ... ORPHA:3453
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Anem... OMIM:220110
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short foot, Res... OMIM:617809
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Eec Syndrome
Aplasia/Hypoplasia of the skin, Slow-growing hair, Decreased response to growth hormone stimulati... ORPHA:1896
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Hennekam Syndrome
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... ORPHA:2136
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Sparse axillary hair, Sparse pubic hair, Subcutaneous no... ORPHA:36397
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... OMIM:610199
Biotinidase Deficiency
Hepatomegaly, Recurrent skin infections, Skin rash, Apnea, Seborrheic dermatitis, Splenomegaly, D... OMIM:253260
Encephalitis Lethargica
Autoimmunity, Bowel incontinence, Recurrent viral infections, Increased circulating antibody leve... ORPHA:83600
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Dermatitis Herpetiformis
Skin vesicle, Erythema, Autoimmunity, Microcytic anemia ORPHA:1656
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Hypoparathyroidism ORPHA:50810
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Erysipelas ORPHA:79452
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr... OMIM:610984
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Cryptorchidism, Tracheo... OMIM:217980
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Small nail, Camptodactyly, Joint contracture... OMIM:251300
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Hypopigmented skin patches, Hashimoto thyroiditis ORPHA:3143
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lung lobatio... ORPHA:141127
Al-Raqad Syndrome
Joint laxity, Hypopigmentation of the skin OMIM:616459
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... ORPHA:302
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Sacral dimple, Aganglionic me... ORPHA:175
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Hypoperistalsis, Keratitis, Co... ORPHA:1018
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctivitis ORPHA:863
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... OMIM:601847
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches, Reduced bone mineral density, Nevus fl... ORPHA:2875
Viss Syndrome
Sparse scalp hair, Alopecia, Patent ductus arteriosus, Increased circulating IgE level, Hypereosi... OMIM:619472
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Degcags Syndrome
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficie... OMIM:619488
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Splenomegaly, Defective production of... OMIM:612132
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Pleuritis... OMIM:609939
Aapoaiv Amyloidosis
Diabetes mellitus, Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration... ORPHA:439232
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy ORPHA:2483
Cysticercosis
Retinal detachment, Abnormal optic chiasm morphology, Stiff neck, Iridocyclitis, Chorioretinitis,... ORPHA:1560
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Abnormal myelination ORPHA:289266
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, A... ORPHA:79404
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal fibula morphology, Tibial bowing,... ORPHA:3035
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Metaphyseal widening, Recurrent upper respiratory tract in... OMIM:253200
Adenocarcinoma Of The Anal Canal
Neoplasm of the lung, Skin ulcer, Lymphadenopathy ORPHA:424016
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... ORPHA:309282
Autoerythrocyte Sensitization Syndrome
Superficial dermal perivascular inflammatory infiltrate, Epistaxis, Edema, Autoimmune thrombocyto... ORPHA:324636
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Waardenburg Syndrome, Type 1
Thick eyebrow, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Prematur... OMIM:193500
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Hyperhom... OMIM:277380
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Chronic otitis media,... ORPHA:567
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea OMIM:235555
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Dyspnea, Pulmonary artery stenosis, Myocarditis, Cardioresp... ORPHA:3342
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Eczema OMIM:608118
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Autoimmunity, Pituitary a... ORPHA:199299
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Monosomy 18Q
Bilateral cryptorchidism, Patent ductus arteriosus, Low anterior hairline, Secondary growth hormo... ORPHA:1600
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Abnormal diap... ORPHA:73230
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo... OMIM:274150
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Microvesicular hepatic steatosis, Splen... OMIM:619418
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated pulmonary a... ORPHA:1329
Kniest Dysplasia
Respiratory distress, Recurrent otitis media, Tracheomalacia OMIM:156550
Cocaine Intoxication
Respiratory distress, Glomerulonephritis, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing... ORPHA:90068
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:158330
Maternal Uniparental Disomy Of Chromosome 6
Eczema, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrena... ORPHA:96181
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Sple... OMIM:219800
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia OMIM:151210
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of retinal pigmentation, Sacral dimple, Aplasia/Hypoplasia of t... ORPHA:2556
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Hypopigmented skin... ORPHA:233
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea, Constipation, Metaph... OMIM:239200
Biotinidase Deficiency
Respiratory distress, Apnea, Skin rash, Conjunctivitis, Eczematoid dermatitis, Hyperventilation ORPHA:79241
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... ORPHA:217085
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine con... ORPHA:79284
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of the skin, Hypopigmentation of hair, Central apnea, Recurrent resp... ORPHA:98754
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Optic disc coloboma ORPHA:92050
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia OMIM:231680
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Diabetes mellitus, Elevated circulating creatine kinase con... ORPHA:565612
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of the skin, Hypopigmentation of hair, Central apnea, Recurrent resp... ORPHA:98793
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... ORPHA:217093
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Vomiting, Lymphocytosis... OMIM:619991
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of the skin, Hypopigmentation of hair, Central apnea, Recurrent resp... ORPHA:177904
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonary arteria... OMIM:616028
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Eczema, Aplasia/Hypoplastia of the eccrine sweat glands, Rhi... OMIM:305100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of the skin, Hypopigmentation of hair, Central apnea, Recurrent resp... ORPHA:177901
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Chikungunya
Enthesitis, Skin vesicle, Stiff interphalangeal joints, Infectious encephalitis, Macule, Maculopa... ORPHA:324625
Cornelia De Lange Syndrome 1
Pneumonia, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Optic disc coloboma... OMIM:122470
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Prader-Willi Syndrome
Osteopenia, Hypoventilation, Hypopigmentation of hair, Recurrent respiratory infections, Decrease... OMIM:176270
Lyme Disease
Skin nodule, Uveitis, Arthritis, Joint swelling, Dermal atrophy, Infectious encephalitis ORPHA:91546
Alg9-Cdg
Pericardial effusion, Asthma, Abnormal lung lobation, Hydrops fetalis, Hypoplasia of the ovary, B... ORPHA:79328
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Conjunctivitis, Dermal atrophy, Freckling, Hypopigmentation of the skin OMIM:278720
Familial Cold Urticaria
Arthritis, Erythema, Conjunctivitis ORPHA:47045
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Oculocerebrocutaneous Syndrome
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital hip dislocation, Abnormal fingern... ORPHA:1647
Achondroplasia
Respiratory distress, Upper airway obstruction, Recurrent otitis media, Pulmonary hypoplasia OMIM:100800
Focal Dermal Hypoplasia
Joint laxity, Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Fo... OMIM:305600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Relapsing Polychondritis
Uveitis, Conjunctivitis, Cough, Chondritis, Macule, Alopecia, Atelectasis, Hepatitis, Scleritis, ... ORPHA:728
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Tapered finger, Splenomegaly, Micronodular cirrhosis, Aspira... OMIM:301072
Parkes Weber Syndrome
Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer ORPHA:90307
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthri... ORPHA:342
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Joint swelling, Stiff interp... ORPHA:465508
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Decreased respo... ORPHA:177907
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia OMIM:258865
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... ORPHA:210122
Epidermal Nevus Syndrome
Osteopenia, Atrophy of the spinal cord, Nevus, Hypopigmentation of the skin, Hyperpigmentation of... ORPHA:35125
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia OMIM:619423
Rodrigues Blindness
Nasal flaring OMIM:268320
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Bowing of the long bones, Apnea, Splenomegaly, Pu... ORPHA:667
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Cerebral cortical atrophy, Blue irides OMIM:105830
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Pulmonary arte... ORPHA:71493
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Unilateral primary pulmonary dysgen... OMIM:192430
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Hypopigmented skin patches, Fine hair, Joint hyperflexibility, ... ORPHA:2637
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Synophrys, Decreased circulating antibody level, Decreased circulating IgG... OMIM:617062
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C... ORPHA:53271
Neuroleptic Malignant Syndrome
Pulmonary embolism, Leukocytosis, Sepsis, Hyperhidrosis, Vomiting, Aspiration pneumonia, Dysphagi... ORPHA:94093
Holocarboxylase Synthetase Deficiency
Skin rash, Tachypnea, Hyperammonemia, Thrombocytopenia, Hyperventilation OMIM:253270
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils... ORPHA:235
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hy... ORPHA:98794
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Adenoiditis, Splenomegaly, Respir... ORPHA:581
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Unilateral breast hypoplasia OMIM:300968
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... OMIM:609136
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Ablepharon Macrostomia Syndrome
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality o... ORPHA:920
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Optic atrophy, Optic neuropathy, Decreased circul... OMIM:604928
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Synophrys, Hip dislocation, Genu valgum, Hepatosplenomegaly, Cholec... OMIM:301066
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Pachyonychia Congenita
Respiratory distress, Angular cheilitis ORPHA:2309
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Glycogen Storage Disease Ia
Osteoporosis, Gout, Xanthelasma, Xanthomatosis, Pancreatitis, Lipemia retinalis OMIM:232200
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Skin rash, Hypercalcemia, Elevated circulating growt... ORPHA:97280
Cohen Syndrome
Abnormality of retinal pigmentation, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low... ORPHA:193
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Dyspnea, Abnormal pulmonary interstitial... ORPHA:35687
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Arthritis ORPHA:397744
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Polymyositis
Pericarditis, Autoimmunity, Abnormal pulmonary interstitial morphology, Respiratory insufficiency... ORPHA:732
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Redundant skin, Seborrheic dermatitis, Limitation of joint mobility, Ost... OMIM:259100
Familial Tumoral Calcinosis
Skin rash, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Periarticular... ORPHA:53715
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia, Flattened femoral head, Broad long bone diaphyses, Broa... ORPHA:79255
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Kawasaki Disease
Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Leukocytosis, Cervical lymphaden... ORPHA:2331
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Osteomyelitis leading to amputation due to slow healing fractures, Increase... OMIM:256810
Mosaic Trisomy 8
Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Patellar aplasia, Hypopigm... ORPHA:96061
Cholera
Palmoplantar cutis laxa, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Hyperpigmentation of the skin, P... ORPHA:699
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Broad eyebrow, Osteomyelitis, Synophrys, Genu valgum, Melanocytic nevus, Abnormalit... OMIM:619475
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Brushfield spots, Hypopigmented skin patches, Anonychia, Cerebral cortic... ORPHA:1784
Hartnup Disease
Skin rash, Irregular hyperpigmentation, Infectious encephalitis, Hypopigmented skin patches ORPHA:2116
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Micronodular cirrhosis, Abnormal granulocyte morphology, Hepatic steatosis ORPHA:98907
Colchicine Poisoning
Respiratory distress, Myocarditis, Leukocytosis, Cardiorespiratory arrest ORPHA:31824
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Ruvalcaba Syndrome
Cryptorchidism, Abnormality of the elbow, Hypopigmented skin patches, Generalized hirsutism, Syno... ORPHA:3121
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Ovarian cyst, Hyperparathyroidism, Splenic cyst OMIM:618188
Mandibuloacral Dysplasia
Sparse hair, Abnormality of skin pigmentation, Alopecia, Hypoplastic fingernail ORPHA:2457
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Abnormal myelination ORPHA:442835
Fabry Disease
Dyspnea, Subcutaneous nodule, Optic atrophy, Chronic pulmonary obstruction, Respiratory insuffici... ORPHA:324
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Aty... ORPHA:642
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Pallor ORPHA:2131
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Leptospirosis
Respiratory distress, Pericarditis, Skin rash, Hepatitis, Uveitis, Lymphadenopathy, Optic neuriti... ORPHA:509
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Redundant neck skin, Palmoplantar cutis laxa OMIM:123790
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism ORPHA:1555
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Recurrent respiratory infections, Absence of Stensen duct, Decreased response ... OMIM:129900
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Postaxial polydactyly, Rhizomelic leg shortening, Proxim... ORPHA:397715
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Inflammatory abnormality of the skin, Increased circulating free fatty acid level OMIM:610768
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Hurler Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Abnorma... ORPHA:93473
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia OMIM:619167
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Hypop... ORPHA:163746
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea, Pulmonary edema OMIM:261740
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Preauricular pit, Increased bone mineral density, Iris transillumination defect, Osteopetrosis, G... OMIM:617306
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level... ORPHA:373
Ethylene Glycol Poisoning
Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary e... ORPHA:31826
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Pustule, Respiratory in... ORPHA:29207
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Tay-Sachs Disease
Hepatosplenomegaly, Distal upper limb muscle weakness, Aspiration pneumonia, Dysphagia, Limited e... ORPHA:845
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Joint stiffness, Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail, Genu valgum ORPHA:1295
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Aspiration pneumonia, Syndactyly OMIM:616430
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, Re... ORPHA:805
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented... OMIM:613266
Gaisböck Syndrome
Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, Increased hemat... ORPHA:90041
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Leukemia, Hypopigmentation of the skin, Axillary freckling OMIM:276300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Neutropenia, Stomatitis, Pulmonar... ORPHA:79282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea ORPHA:17
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... ORPHA:567983
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Chronic constipation, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Harrod Syndrome
Joint hyperflexibility, Cerebral cortical atrophy, Hypopigmented skin patches, Cryptorchidism ORPHA:2115
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Vertical Talus, Congenital
Arthritis OMIM:192950
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Autoimmunity, Chilblains, Neonatal alloimmune thrombocytop... ORPHA:51
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho... ORPHA:646
Marshall-Smith Syndrome
Hallux valgus, Apnea, Bullet-shaped middle phalanges of the hand, Slender finger, Recurrent upper... OMIM:602535
Meier-Gorlin Syndrome 1
Respiratory distress, Cryptorchidism, Emphysema, Breast hypoplasia OMIM:224690
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Abnormality of ... ORPHA:56
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Cryptorchidism ORPHA:404448
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Abnormality of the elbow, Oligoarthritis, Enthesitis, Arth... ORPHA:85438
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Chronic pulmonary obstruction, Spontaneous pneumothorax OMIM:619825
Ramos-Arroyo Syndrome
Respiratory distress, Keratitis ORPHA:1051
Split Cord Malformation
Tufted hairs, Penetrating foot ulcers, Skin dimple, Hyperpigmentation of the skin, Hypertrichosis ORPHA:573278
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Hypospadias, Recurrent pneumonia, Annular pancreas, Micropeni... ORPHA:798
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Cryptorchidism, Respiratory failure, Breast aplasia ORPHA:2554
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Hypopigmented skin patches, Esophagi... ORPHA:2896
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy... ORPHA:77293
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... OMIM:604292
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Recurrent urinary tract infections, Decreased sweating due to autonomic dysfunction, ... ORPHA:99027
Glycogen Storage Disease Ic
Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Xan... OMIM:232240
Lymphangioleiomyomatosis
Recurrent respiratory infections, Ungual fibroma, Atelectasis, Pneumothorax, Abnormality of the l... ORPHA:538
Cockayne Syndrome A
Hepatomegaly, Dry hair, Splenomegaly, Retinal pigment epithelial mottling, Cryptorchidism, Abnorm... OMIM:216400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Recurrent respiratory infections, Small for gestational age, Splenomegaly, Delayed myelination, G... ORPHA:404454
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Asplenia, Total anomalous pulmonary venous return,... OMIM:306955
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Isolated Arrhinia
Respiratory distress ORPHA:1134
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypochromic microcytic a... ORPHA:97214
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Cryptorchidism, Hip dislocatio... ORPHA:84
Sotos Syndrome
Joint laxity, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis... ORPHA:821
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... ORPHA:744
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Tachypnea, Aortopulmonary window ORPHA:2299
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Recurrent infections, Short 5th finger, Aspiration ... ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Broad hallux, Pneumonia, Av... ORPHA:353281
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Brachydactyly, Proportionate shortening of all digits, Tapered finger, Small hand, Short foot, Ga... ORPHA:280633
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Deep palmar crease, Polydactyly, Camptodactyly, Clinodactyly of ... OMIM:247200
Wiedemann-Rautenstrauch Syndrome
Long toe, Recurrent respiratory infections, Short humerus, Short femur, Pneumonia, Long fingers, ... OMIM:264090
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Ectopic thyroid ORPHA:3206
Gitelman Syndrome
Respiratory distress, Neoplasm of the pancreas, Gout, Tubulointerstitial nephritis, Iron deficien... ORPHA:358
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Myositis, Pericarditis, Sacral dimple, Abnormal chorioreti... ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Syndactyly, Broad hallux, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Syndactyly, Broad hallux, P... ORPHA:353277
Rubinstein-Taybi Syndrome 1
Respiratory distress, Accessory spleen, Respiratory tract infection, Bilateral cryptorchidism, Cr... OMIM:180849
Tetragametic Chimerism
Blood group antigen abnormality, Cryptorchidism, Abnormal cellular immune system morphology, Hypo... ORPHA:199310
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Astrocytosis, Abnormal myelination ORPHA:309854
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Recurrent respiratory infections, Gout ORPHA:411543
Progeroid Short Stature With Pigmented Nevi
Numerous nevi, Allergic rhinitis, Impaired T cell function, Abnormal joint morphology, Allergic c... OMIM:176690
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Aplasia/Hypoplasia of the gallbladder, Pancreati... ORPHA:2255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress OMIM:617156
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Asthma, Small hand, Fibular hypoplasia, Hy... ORPHA:444077
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Anemia, Hepatosplenomegaly ORPHA:247598
Doors Syndrome
Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology... ORPHA:79500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Unilateral lung agenesis, Sparse eyebrow, Patent ductus arteriosu... ORPHA:500150
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Kabuki Syndrome 1
Hemolytic anemia, Prominent fingertip pads, Autoimmune thrombocytopenia, Recurrent infections, Co... OMIM:147920
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Alkaptonuria
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... OMIM:203500
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93924
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Abnormal lung lobation ORPHA:508488
Fontaine Progeroid Syndrome
Absent nipple, Redundant skin, Cryptorchidism, Pneumothorax, Respiratory insufficiency, Pulmonary... OMIM:612289
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Splenomegaly OMIM:617088
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Depigmentation/hyperpigmentation of skin, Fused cervical verteb... ORPHA:1724
Cowden Syndrome
Macule, Enlarged polycystic ovaries, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic... ORPHA:201
Cockayne Syndrome Type 3
Splenomegaly, Astrocytosis, Demyelinating peripheral neuropathy, Abnormal myelination ORPHA:90324
Pallister-Killian Syndrome
Congenital hip dislocation, Flexion contracture, Hyperpigmented streaks, Camptodactyly of 2nd-5th... OMIM:601803
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Anemia, Gastroesophageal reflux, Constipation, A... ORPHA:438213
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination, Abnormal myelination ORPHA:466768
Choreoacanthocytosis
Caudate atrophy, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Arthritis, Abno... ORPHA:2388
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Dry skin, Recurrent pneumonia, Acute myelomonocytic leukemia ORPHA:99646
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Recurrent upper and lower respiratory tract... ORPHA:480880
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Multiple Osteochondromas
Abnormality of the knee, Limitation of joint mobility, Abnormal carpal morphology, Femoroacetabul... ORPHA:321
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Yunis-Varon Syndrome
Single transverse palmar crease, Short metatarsal, Palmoplantar hyperkeratosis, Absent hallux, As... OMIM:216340
Alström Syndrome
Respiratory distress, Decreased testicular size, Glomerulonephritis, Chronic bronchitis, Decrease... ORPHA:64
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Aplasia/Hypoplasia of the pancreas, Arthritis ORPHA:93111
Aspartylglucosaminuria
Recurrent respiratory infections, Macroorchidism, Joint stiffness, Splenomegaly, Arthritis, Chron... ORPHA:93
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Pancreatic calcification ORPHA:51608
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Onychogryposis, Foot acroosteolysis OMIM:161700
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Nail dysplasia, Abno... ORPHA:2363
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Abnormal myelination ORPHA:434179
Pmm2-Cdg
Respiratory distress, Pericarditis, Elevated circulating growth hormone concentration, Aspiration... ORPHA:79318
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
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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