Gene Summary

Name:
diphthamine biosynthesis 6
Synonyms:
5730421E18Rik,  Atpbd4,  Diphthine ammonia ligase

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased CD11b-low dendritic cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased NK T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased plasma cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating magnesium level Dph6tm1a(KOMP)Wtsi HOM Early adult 1.99×10-08
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased red blood cell distribution width Dph6tm1a(KOMP)Wtsi HOM   Early adult 1.23×10-05
increased memory-marker CD4-negative NK T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased hematocrit Dph6tm1a(KOMP)Wtsi HOM   Early adult 9.31×10-07
increased memory-marker gamma-delta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased T-helper cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased plasmacytoid dendritic cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased effector memory T-helper cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased monocyte cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased dendritic cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased gamma-delta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased mature B cell number Dph6tm1a(KOMP)Wtsi HOM Early adult 0.00
increased CD4-positive, alpha-beta memory T cell number Dph6tm1a(KOMP)Wtsi HOM Early adult 0.00
increased CD4-positive, alpha-beta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased KLRG1-positive T-helper cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased body length Dph6tm1a(KOMP)Wtsi HOM Early adult 1.16×10-06
increased CD5-positive gamma-delta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased erythrocyte cell number Dph6tm1a(KOMP)Wtsi HOM Early adult 3.23×10-05
decreased Ly6C-positive mature NK cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased granulocyte number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal coat/hair pigmentation Dph6tm1a(KOMP)Wtsi HOM Early adult 3.53×10-05
increased marginal zone B cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased blood urea nitrogen level Dph6tm1a(KOMP)Wtsi HOM Early adult 5.28×10-10
vertebral transformation Dph6tm1a(KOMP)Wtsi HOM Early adult 1.79×10-06
decreased CD8-positive, alpha-beta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating creatinine level Dph6tm1a(KOMP)Wtsi HOM Early adult 8.94×10-10
decreased CD8-positive, naive alpha-beta T cell number Dph6tm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased hemoglobin content Dph6tm1a(KOMP)Wtsi HOM   Early adult 2.70×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

Spleen Immunophenotyping

Images associated with FACS analysis

171 Images

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

102 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 73 images

Human diseases caused by Dph6 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 Dph6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Melanocytic nevus, Abnormal hemoglobin, Short neck, Thromb... ORPHA:3319
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, R... OMIM:615631
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy OMIM:618806
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H... ORPHA:90362
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopen... OMIM:619644
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Increased blood u... OMIM:617872
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Hyperpigmentation of the skin, Lymphadenopathy, ... OMIM:609981
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule ... OMIM:616959
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Long eyelashes, Reduced h... OMIM:301110
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia OMIM:617056
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, M... OMIM:620565
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas... OMIM:619846
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... OMIM:226990
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Hypokalemia, Nail dysplasia, Hyperpigment... OMIM:175500
Colchicine Poisoning
Alopecia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia... ORPHA:31824
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Neutropenia, Scoliosis OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Hepatitis, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomegaly, ... ORPHA:37042
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... ORPHA:543
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Acquired Partial Lipodystrophy
Generalized hirsutism, Lymphocytosis, Hepatic steatosis ORPHA:79087
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Vitiligo, Abnormal B cell count, Autoimmune hemo... OMIM:620430
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Enlarged platelet dense granules, Fair hair, Ocular ... OMIM:608233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Nail dystrophy, Increased T cell count, I... ORPHA:98813
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Nail dystrophy, B l... OMIM:620133
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency, Common Variable, 4
Abnormal T cell count OMIM:613494
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells ORPHA:477814
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Immunodeficiency, Common Variable, 6
Hepatomegaly, Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells OMIM:615767
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele... OMIM:618048
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Anisocytosis OMIM:604273
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Lymphopenia, Multiple cafe-au-lait s... ORPHA:100
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Decre... ORPHA:508533
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Hepatomegaly, Short ... OMIM:608104
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hepatitis, Abnormal circula... ORPHA:381
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Conj... OMIM:269920
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hypopigmentation of the skin, Leukopenia, Erythroid hyperplasia, Abnormal ... ORPHA:79277
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... ORPHA:331235
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Decreased proportion of CD4-positive helper... OMIM:243700
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Hyperpigmentation of the skin, Impa... ORPHA:35078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... OMIM:619767
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Neoplasm of t... ORPHA:358
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci... OMIM:602450
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas... OMIM:619652
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai... OMIM:617237
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Hypertrichosis, Decreased proportion of CD4-positive helper T ... ORPHA:221139
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Preeclampsia
Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Thrombocyt... ORPHA:275555
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Hepatosplenomegaly, D... OMIM:606367
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari... OMIM:617341
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen ORPHA:251004
Cartilage-Hair Hypoplasia
Sparse eyebrow, Hypoplasia of the odontoid process, Fair hair, Fine hair, Lymphopenia, Lumbar hyp... OMIM:250250
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, L... OMIM:258360
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Hepatomegaly, Macrovesicular hepatic steatosis, T lymph... OMIM:616433
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Low back ... ORPHA:86843
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... ORPHA:79124
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen... ORPHA:3322
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine... OMIM:102700
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Lymphopenia, Portal hypertension, Nail dystrophy, Thrombocytopenia, An... OMIM:620365
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Cockayne Syndrome Type 1
Pigmentary retinopathy, Hepatomegaly, Increased blood urea nitrogen, Anemia, Hypermelanotic macul... ORPHA:90321
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ... ORPHA:169160
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce... OMIM:619381
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Jaundice ORPHA:469
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic m... OMIM:616084
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat... OMIM:617099
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... OMIM:616943
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Abscess, Hypocalcemia,... ORPHA:36234
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell c... OMIM:620376
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypophosphatemia, Hypercalcemia OMIM:600740
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Lymphopenia, Anemia, Abnormality of the pancreas ORPHA:935
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Abnormal lymphocyte morphology, Nail dystrophy, Hyponatremia, Abnorma... ORPHA:293978
Wolcott-Rallison Syndrome
Hypoalbuminemia, Exocrine pancreatic insufficiency, Abnormality of the liver, Hyperbilirubinemia,... ORPHA:1667
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Pancreatitis, Hypercalcemia OMIM:145981
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancyt... OMIM:613989
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Scoliosis, Hypermelanotic macule, Lymphopenia, Vitiligo, Lumbar hyperlordosis, T l... OMIM:607944
Hereditary Methemoglobinemia
Methemoglobinemia, Abnormality of the nail ORPHA:621
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypercalcemia OMIM:145980
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premat... OMIM:127550
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... ORPHA:99826
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Low back pain, Increased blood ... ORPHA:49041
Multiple Myeloma
Elevated circulating creatinine concentration, Vertebral compression fracture, Splenomegaly, Lymp... ORPHA:29073
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia OMIM:615758
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Hypop... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero... OMIM:618885
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... OMIM:214450
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Vitiligo ORPHA:275
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or pr... ORPHA:83471
Syndromic Diarrhea
Hepatic fibrosis, Trichorrhexis nodosa, Lymphopenia, Abnormality of the liver, Brittle hair, Sple... ORPHA:84064
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... ORPHA:99829
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Livedoid Vasculopathy
Hyperpigmented streaks, Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Leu... ORPHA:542643
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Decreased circulating carnitine... OMIM:219800
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Fair hair, Cyclic neutropenia, Hypochromic microc... OMIM:302060
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... OMIM:260400
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Elevated circulating creatinine concentration, Hepatosplenomegaly... ORPHA:85450
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Polycythemia OMIM:600501
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Vitiligo, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, D... OMIM:614700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat... ORPHA:247691
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Short neck, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow ORPHA:98791
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ... OMIM:613280
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Microcytic anemia, Hepatic steatosis, Thoracic scoliosis, Low posterior hairline, Hyper... ORPHA:2959
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Small nail, Pers... OMIM:617052
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis OMIM:307200
Vici Syndrome
Albinism, Hypopigmentation of the skin, Ocular albinism, Lymphopenia, Leukopenia, Decreased propo... OMIM:242840
Ataxia-Telangiectasia
Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor... OMIM:208900
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... OMIM:614743
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F OMIM:617101
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Low anterior hairline, Aplasia of the thymus, Short neck, Hemivertebr... OMIM:618223
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... OMIM:620005
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis, T lymphocyt... OMIM:300755
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Generalized hypopigmentat... ORPHA:2720
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Fair hair, Premature graying of hair, Pancytopenia, Hemiver... OMIM:620331
Nijmegen Breakage Syndrome
Progressive vitiligo, Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Thrombocy... OMIM:251260
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... ORPHA:729
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Thoracolumbar scoliosis, Curly hair, Long eye... OMIM:619503
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Per... OMIM:105650
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait ... OMIM:618541
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... OMIM:223360
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr... ORPHA:391487
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Kyphosis ORPHA:2786
Bloom Syndrome
Recurrent tonsillitis, Hypopigmentation of the skin, Abscess, Decreased proportion of CD4-positiv... ORPHA:125
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Hepatic steatosis, Generalized hypopigmentation, Azotemia OMIM:619321
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Congenital hepa... OMIM:619111
Dyskeratosis Congenita
Bone marrow hypocellularity, Alopecia, Hypopigmented skin patches, White hair, Premature graying ... ORPHA:1775
Alg12-Cdg
Hypoalbuminemia, Small nail, Hypocholesterolemia, Hyponatremia, Low posterior hairline, Thrombocy... ORPHA:79324
Autosomal Dominant Hypocalcemia
Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Hypomagnesemia, Abnormal fingernail mor... ORPHA:428
Igg4-Related Kidney Disease
Lymphadenitis, Decreased retinol-binding protein level, Abnormal mesentery morphology, Elevated c... ORPHA:449395
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr... OMIM:619172
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasia, B lymphocy... ORPHA:83617
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... ORPHA:309854
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Scoliosis, Increased blood urea nitrogen OMIM:223900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Kyphoscoliosis, Hypochromic microcytic anemia, Hemivertebrae, Reduced alpha/beta ... OMIM:301040
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Back pain ORPHA:94088
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration, Supernumerary nipple OMIM:614376
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Degcags Syndrome
Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Low... OMIM:619488
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Aminoaciduria, Elevated circulating creatinine concentration, Reduced hematocr... ORPHA:91500
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Vitiligo... ORPHA:289390
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Abnormal circulating calcium concentration, Hypomagnesemia OMIM:248190