Gene Summary

Name:
X-box binding protein 1
Synonyms:
TREB-5,  XBP-1,  D11Ertd39e,  TREB5

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
abnormal vertebral arch morphology Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 1.02×10-07
increased mean corpuscular volume Xbp1tm1b(EUCOMM)Wtsi HET Early adult 1.50×10-08
cataract Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 1.27×10-05
decreased circulating triglyceride level Xbp1tm1a(EUCOMM)Wtsi HET Early adult 4.85×10-05
preweaning lethality, complete penetrance Xbp1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased leukocyte cell number Xbp1tm1b(EUCOMM)Wtsi HET Early adult 7.30×10-07
decreased circulating cholesterol level Xbp1tm1a(EUCOMM)Wtsi HET Early adult 4.17×10-07
increased lean body mass Xbp1tm1a(EUCOMM)Wtsi HET Early adult 8.10×10-06
decreased lymphocyte cell number Xbp1tm1b(EUCOMM)Wtsi HET Early adult 7.74×10-05
decreased red blood cell distribution width Xbp1tm1b(EUCOMM)Wtsi HET Early adult 8.91×10-06
increased body weight Xbp1tm1a(EUCOMM)Wtsi HET Early adult 5.98×10-05
abnormal bone mineralization Xbp1tm1a(EUCOMM)Wtsi HET Early adult 9.47×10-05
increased bone mineral content Xbp1tm1a(EUCOMM)Wtsi HET Early adult 5.58×10-09
decreased large unstained cell number Xbp1tm1b(EUCOMM)Wtsi HET Early adult 1.41×10-05
decreased T cell number Xbp1tm1a(EUCOMM)Wtsi HET Early adult 8.55×10-05
preweaning lethality, complete penetrance Xbp1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased total body fat amount Xbp1tm1a(EUCOMM)Wtsi HET Early adult 1.81×10-09
thrombocytopenia Xbp1tm1a(EUCOMM)Wtsi HET Early adult 6.57×10-05
abnormal lens morphology Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 1.27×10-05
persistence of hyaloid vascular system Xbp1tm1b(EUCOMM)Wtsi HET   Early adult 8.48×10-05
abnormal urination Xbp1tm1a(EUCOMM)Wtsi HET   Early adult 3.14×10-06
vertebral fusion Xbp1tm1a(EUCOMM)Wtsi HET Early adult 3.68×10-21
increased grip strength Xbp1tm1a(EUCOMM)Wtsi HET Early adult 1.68×10-05
abnormal behavior Xbp1tm1a(EUCOMM)Wtsi HET Early adult 3.26×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Wholemount images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Whole Body Dorso Ventral

26 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

12 Images

MicroCT E14.5-E15.5

Embryo reconstruction

1 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Xbp1 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 Xbp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Pallor ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, S... OMIM:615631
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Intrauterine growth retardatio... OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia OMIM:206100
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Pallor, Growth delay, Eleva... OMIM:615234
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Beta-Thalassemia
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Pallor, Thrombocytopenia... ORPHA:848
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal hemoglobin, Anemia, Short neck, Thrombocytopenia, Decreased skull ossificatio... ORPHA:3319
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Bone pain, Osteopenia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia ORPHA:318
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Danon Disease
Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy, Myocardial necrosis,... OMIM:300257
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase, Sideroblastic anemia, Growth delay, Pallor OMIM:613561
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia OMIM:312500
Elliptocytosis 1
Jaundice, Elliptocytosis, Hemolytic anemia, Splenomegaly, Pallor OMIM:611804
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:507
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly OMIM:185000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Splenomegaly, Pallor ORPHA:163596
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Increased c... ORPHA:824
Forsythe-Wakeling Syndrome
Osteoporosis, Nephrotic syndrome, Thrombocytopenia, Delayed skeletal maturation, Decreased body w... OMIM:613606
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor ORPHA:517
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... OMIM:616860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Retinal atrophy, Decreased mean corpuscular volume, Optic d... OMIM:616959
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... ORPHA:822
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Extramedullary hematopoiesi... ORPHA:231222
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Elevated hepa... ORPHA:300298
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL cholesterol concentrati... OMIM:616834
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Reduced bone mineral density, Small for gestational age, Inguinal hernia, Delayed ossif... OMIM:618392
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Vert... OMIM:277300
Anemia, Sideroblastic, 1
Anemic pallor, Anemia of inadequate production, Macrocytic anemia, Sideroblastic anemia, Hypochro... OMIM:300751
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocytopenia, Auto... ORPHA:1959
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Keratoconus Posticus Circumscriptus
Short neck, Central posterior corneal opacity, Keratoconus, Abnormal vertebral segmentation and f... OMIM:244600
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... OMIM:612158
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Osteoporosis, Amelogenesis imperfecta, Elevated circulating creatine k... OMIM:614727
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Short s... OMIM:611590
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Majeed Syndrome
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... OMIM:609628
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... OMIM:617514
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Kniest Dysplasia
Abnormal joint morphology, Vertebral wedging, Flexion contracture of finger, Aplasia/Hypoplasia o... ORPHA:485
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate producti... ORPHA:86839
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... OMIM:127550
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae, Flexion contracture, T... OMIM:618469
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis, Iris coloboma OMIM:613702
Peripheral Cone Dystrophy
Pallor OMIM:609021
Immunodeficiency 95
Lymphopenia OMIM:619773
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death, Anemia OMIM:273680
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Intermediate Osteopetrosis
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... ORPHA:210110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Craniosynostosis, Camptodactyly, Scoliosis, Vertebral fusion, Inguinal hernia, Short neck, Knee f... OMIM:178110
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Failure to thrive, Thrombocytopenia, 3-Methylglutaconic aciduria ORPHA:67048
Multiple Synostoses Syndrome 2
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... OMIM:610017
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Anemia, Thrombocytopenia, Pallor, Neutropenia OMIM:246400
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Shwachman-Diamond Syndrome 1
Short stature, Myocardial necrosis OMIM:260400
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Niemann-Pick Disease, Type B
Anemia, Bone-marrow foam cells, Hepatomegaly, Short stature, Sea-blue histiocytosis, Thrombocytop... OMIM:607616
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Splenomegaly OMIM:613313
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Ureteral atresia, Unilateral renal agenesis, Sacral dimple, Vertebral segmentat... OMIM:618845
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Beta-Thalassemia Major
Hepatosplenomegaly, Delayed puberty, Hepatocellular carcinoma, Anisopoikilocytosis, Jaundice, Ext... ORPHA:231214
Diaphanospondylodysostosis
Multiple renal cysts, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve... ORPHA:66637
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Delayed puberty, Hepatocellular carcinoma, Jaundice, Extramedul... ORPHA:231226
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Reduced level of N-ac... OMIM:224100
Gorlin Syndrome
Cataract, Scoliosis, Vertebral fusion, Iris coloboma, Vertebral wedging, Hemivertebrae ORPHA:377
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia OMIM:616871
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Scoliosis, Kyphosis, Elevated circulating creatine kinase concentration, Spinal rigidit... OMIM:617404
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... OMIM:617052
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Increased susceptibility to fractures, I... ORPHA:93315
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Micropenis, Thoracolumbar scoliosis, Delayed cranial suture clos... OMIM:113000
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Hypophosphatemia, Scoliosis, Genu varum, Abnormal adipose tissue morphology, Bone pai... ORPHA:93160
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... OMIM:246700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Kyphosis, Elevated circulating creatine kinase concentration, Elbow ... OMIM:606612
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Atransferrinemia
Hypochromic anemia, Abnormality of the liver OMIM:209300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... OMIM:603552
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Sple... OMIM:607765
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Hepatomegaly, Pallor, Thrombocytopenia, Acute leukemia... ORPHA:3226
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Metatropic Dysplasia
Cataract, Camptodactyly of finger, Scoliosis, Abnormal cortical bone morphology, Joint stiffness,... ORPHA:2635
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Thrombocytopenia, Pallor, Megaloblastic anemia ORPHA:49827
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Hemivertebrae OMIM:122600
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Verheij Syndrome
Small for gestational age, Scoliosis, Vertebral fusion, Hip dislocation, Short neck, Renal cyst, ... OMIM:615583
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Diamond-Blackfan Anemia 5
Macrocytic anemia, Leukopenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Osteoporosis, Failure to thrive, H... OMIM:266510
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly, Pallor ORPHA:90033
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Flynn-Aird Syndrome
Cataract, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density w... OMIM:136300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia OMIM:608898
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Aarskog-Scott Syndrome
Camptodactyly of finger, Inguinal hernia, Short neck, Megalocornea, Umbilical hernia, Genu recurv... ORPHA:915
Optic Atrophy 1
Pallor OMIM:165500
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Anemia, Elevated hepatic transaminase, Hepatomegaly, Macrocytic anemia, He... OMIM:615438
Hemochromatosis, Type 3
Anemia, Elevated hepatic transaminase, Lymphopenia, Cirrhosis, Purpura, Neutropenia OMIM:604250
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Abnormal ... ORPHA:2345
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... OMIM:618156
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Exocrine pancreatic insufficiency, Erythema, Anemia, Hepatomegal... OMIM:557000
Congenital Toxoplasmosis
Jaundice, Anemia, Intrauterine growth retardation, Hepatomegaly, Elevated hepatic transaminase, T... ORPHA:858
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... ORPHA:71275
Schimke Immunoosseous Dysplasia
Small for gestational age, Proteinuria, Short neck, Lymphopenia, Osteopenia, Thrombocytopenia, Pa... OMIM:242900
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Hepatomegaly, Pallor ORPHA:276575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia... OMIM:600462
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, B lymphocytope... OMIM:601457
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... OMIM:615008
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor ORPHA:276556
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Exercise-induced myoglobinuria, Kyphosis, Elevated circulating creat... OMIM:607155
Cholesteryl Ester Storage Disease
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... OMIM:278000
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... OMIM:612690
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Corneal opacity ORPHA:2432
Potocki-Lupski Syndrome
Hypocholesterolemia, Scoliosis, Small for gestational age, Failure to thrive OMIM:610883
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:98375
Autosomal Erythropoietic Protoporphyria
Erythema, Cirrhosis, Microcytic anemia, Decreased liver function, Cholelithiasis ORPHA:79278
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Reticulocytosis, Anemia, Sclerotic vertebral endplates, Thrombocy... OMIM:611490
Sengers Syndrome
Cataract, Osteopenia, Thrombocytopenia, Developmental cataract, 3-Methylglutaconic aciduria OMIM:212350
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Optic nerve hypoplasia ORPHA:261250
Kahrizi Syndrome
Cataract, Thoracic kyphosis, Iris coloboma, Knee flexion contracture, Elbow contracture OMIM:612713
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis ORPHA:313892
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Abnormal vertebral segmentation and f... ORPHA:90650
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Inguinal hernia, Irregular vertebral endplates, Coronal cleft vertebrae, Truncal obesi... OMIM:618363
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Abscess, Failure to thrive in infancy, Fused cervical vertebrae, Peri... OMIM:612852
Wildervanck Syndrome
Fused cervical vertebrae, Lens subluxation, Short neck ORPHA:3456
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Patellar dislocation, Hemive... ORPHA:2916
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... ORPHA:2332
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Splenomegaly, T lymphocytopenia OMIM:608971
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Myocardial necrosis ORPHA:68
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor ORPHA:276580
Spondylocarpotarsal Synostosis Syndrome
Cataract, Limited elbow extension, Scoliosis, Vertebral fusion, Inguinal hernia, Short neck, Rena... OMIM:272460
Immunodeficiency 44
Lymphopenia OMIM:616636
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Malaria
Acute kidney injury, Anemia, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:673
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Pallor, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... OMIM:312150
Wilson Disease
Joint swelling, Pathologic fracture, Anemia, Bone pain, Arthritis, Failure to thrive, Back pain, ... ORPHA:905
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Ehlers-Danlos Syndrome, Classic-Like, 2
Inguinal hernia, Hip dislocation, Generalized joint laxity, Short neck, Ventral hernia, Umbilical... OMIM:618000
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Steatorrhea, Kyphosis, Osteopenia, Failure to thrive, Nephrotic syndrome... OMIM:212065
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... OMIM:252011
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Anemia, Lymphopenia, Arthritis, Failure to thrive, Hypertriglyceridemia, Thrombocy... OMIM:617591
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Proteinuria, Short neck, Lymphopenia, Hyperlipidemia, Thrombocytopenia... ORPHA:1830
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Sandwich appearanc... OMIM:259700
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, T lymphoc... OMIM:615617
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Koolen-De Vries Syndrome
Cataract, Hydronephrosis, Scoliosis, Vertebral fusion, Hip dislocation, Abnormal dental enamel mo... ORPHA:96169
Dent Disease
Rickets, Nephrocalcinosis, Renal phosphate wasting, Osteomalacia, Elevated circulating creatine k... ORPHA:1652
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemia, Renal phosphate wasting, Abnormal circulating calcium concentration, B... OMIM:241530
Hypercholanemia, Familial 1
Rickets, Steatorrhea, Increased serum bile acid concentration, Failure to thrive OMIM:607748
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Scoliosis, Vertebral fusion, Neurogenic bladder, Short neck,... OMIM:613686
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Ren... OMIM:300554
Myelofibrosis
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Cirrhosis, Thrombocytopenia, Premature skin wrinkling ORPHA:101028
Atypical Hemolytic Uremic Syndrome
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria ORPHA:2134
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Abnormal renal physiology, Hemophagocytosis, Anemia, Acute lymphoblastic leuk... ORPHA:158057
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Joint dislocation, Multiple pterygia, Increased su... OMIM:253290
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Zonular cataract, Cataract, Scoliosis, Inguinal ... OMIM:222765
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Splenomegaly, Anemia ORPHA:100025
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Abnormal joint morphology, Scoliosis, Hip dislocation, Joint stiffness, Inguinal hernia,... ORPHA:1901
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Gaucher Disease Type 1
Increased bone mineral density, Avascular necrosis, Osteolysis, Proteinuria, Leukopenia, Patholog... ORPHA:77259
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Abnormality of the ureter, Abnormal reticulocyte morphology, Kyphosis, Fused cervical... ORPHA:2522
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Atelis Syndrome 1
Cataract, Leukopenia, Anemia, Thrombocytopenia, Lumbar kyphosis OMIM:620184
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity ORPHA:71529
Osteopetrosis, Autosomal Recessive 8
Anemia, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Otopalatodigital Syndrome Type 2
Cataract, Increased bone mineral density, Camptodactyly of finger, Scoliosis, Hydronephrosis, Ure... ORPHA:90652
Multiple Epiphyseal Dysplasia, Beighton Type
Cataract, Low back pain, Joint stiffness, Abnormal hip joint morphology, Biconcave vertebral bodi... ORPHA:166011
Lowe Oculocerebrorenal Syndrome
Rickets, Camptodactyly of finger, Scoliosis, Hip dislocation, Pathologic fracture, Elevated circu... OMIM:309000
Achondrogenesis Type 2
Cataract, Delayed proximal femoral epiphyseal ossification, Lens subluxation, Unossified sacrum, ... ORPHA:93296
Pseudopseudohypoparathyroidism
Cataract, Short neck, Osteoporosis, Enamel hypoplasia, Obesity OMIM:612463
Dent Disease 1
Rickets, Nephrocalcinosis, Renal phosphate wasting, Osteomalacia, Sparse bone trabeculae, Proxima... OMIM:300009
Preeclampsia
Proteinuria, Small for gestational age, Acute kidney injury, Chronic kidney disease, Thrombocytop... ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:229050
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia OMIM:177000
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulat... ORPHA:263455
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Anemia, Abnormality of neutrophils, Abnormal lymphocyte mo... ORPHA:229717
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Short neck OMIM:214300
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Baralle-Macken Syndrome
Cataract, Urinary incontinence, Kyphosis, Obesity OMIM:619255
Wt Limb-Blood Syndrome
Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia, Radioulnar s... OMIM:194350
Mu-Heavy Chain Disease
Abnormal B cell count, Hepatomegaly, Splenomegaly, Anemia ORPHA:100024
Sepsis In Premature Infants
Jaundice, Leukocytosis, Anemia, Hepatomegaly, Purpura, Pallor, Thrombocytopenia, Petechiae, Decre... ORPHA:90051
Phosphoglycerate Dehydrogenase Deficiency
Developmental cataract, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Amelogenesis imperfecta, Osteopenia, Failure to thri... OMIM:617475
Abetalipoproteinemia
Reticulocytosis, Corneal ulceration, Anemia, Steatorrhea, Decreased LDL cholesterol concentration... ORPHA:14
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Alg12-Cdg
Ulnar deviation of the wrist, Camptodactyly, Scoliosis, Micropenis, Abnormal adipose tissue morph... ORPHA:79324
Alkaptonuria
Low back pain, Vertebral fusion, Decreased glomerular filtration rate, Arthropathy, Limited shoul... OMIM:203500
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology... ORPHA:1345
Lateral Meningocele Syndrome
Scoliosis, Vertebral fusion, Inguinal hernia, Neurogenic bladder, Short neck, Umbilical hernia, K... OMIM:130720
Stormorken-Sjaastad-Langslet Syndrome
Purpura, Short stature, Asplenia, Anemia ORPHA:3204
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... OMIM:613101
Alpha-Mannosidosis
Cataract, Craniofacial hyperostosis, Avascular necrosis, Scoliosis, Inguinal hernia, Short neck, ... ORPHA:61
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Refractory anemia, Leukopenia OMIM:231095
Fanconi Renotubular Syndrome 2
Rickets, Proteinuria, Hypophosphatemia, Glycosuria, Renal phosphate wasting, Decreased glomerular... OMIM:613388
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Koolen-De Vries Syndrome
Cataract, Hydronephrosis, Small for gestational age, Iris hypopigmentation, Scoliosis, Vertebral ... OMIM:610443
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... OMIM:235700
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Immunodeficiency 46
Intermittent thrombocytopenia, Anemia, Failure to thrive, Conjunctivitis, Neutropenia OMIM:616740
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... OMIM:618395
Summitt Syndrome
Craniosynostosis, Obesity OMIM:272350
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Hypophosphatemia, Bone pain, Failure to thrive, Delayed epiphyseal ossification, Sparse ... OMIM:600081
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Camptodactyly, Developmental cataract, Decreased body weight OMIM:619420
Stuve-Wiedemann Syndrome 2
Scoliosis, Camptodactyly, Thrombocytopenia OMIM:619751
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemia, Renal phosphate wasting, Bone pain, Hypophosphatemic rickets, Osteomal... OMIM:193100
Temple Syndrome
Small for gestational age, Scoliosis, Overweight, Truncal obesity, Hypertriglyceridemia, Joint hy... OMIM:616222
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Stiff Skin Syndrome
Cataract, Camptodactyly, Lipodystrophy, Limited shoulder movement, Knee flexion contracture, Elbo... OMIM:184900
Microtriplication 11Q24.1
Scoliosis, Short neck, Joint dislocation, Hyperlipidemia, Keratoconus, Limitation of joint mobili... ORPHA:289522
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormality of the vertebral column, Osteoarthritis, Obesity ORPHA:2206
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Pallor, Hepatic cysts OMIM:616307
Wagr Syndrome
Cataract, Scoliosis, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Obesity ORPHA:893
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Hypocholesterolemia ORPHA:71
Myh9-Related Disease
Proteinuria, Presenile cataracts, Congenital thrombocytopenia, Renal insufficiency, Nephropathy, ... ORPHA:182050
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Nephrocalcinosis, Hypokalemia, Hypercalciuria, Failure to thrive, Distal renal tubular a... OMIM:602722
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Genu varum, Delayed epiphyseal ossification, Sparse bone tra... OMIM:600785
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Wolman Disease
Bone-marrow foam cells, Anemia, Hepatomegaly, Growth delay, Hepatic failure, Splenomegaly ORPHA:75233
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... OMIM:259710
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Ataxia-Pancytopenia Syndrome
Anemia, Ankle clonus, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic le... OMIM:159550
Hypophosphatasia, Adult
Rickets, Chondrocalcinosis, Pathologic fracture, Arthropathy, Osteomalacia, Increased susceptibil... OMIM:146300
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Petechiae, ... OMIM:612840
Larsen Syndrome
Spondylolysis, Tracheomalacia, Scoliosis, Vertebral fusion, Hip dislocation, Multiple carpal ossi... OMIM:150250
Fanconi Anemia, Complementation Group I
Short neck, Horseshoe kidney, Astigmatism, Fused cervical vertebrae, Vesicoureteral reflux, Decre... OMIM:609053
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis... ORPHA:98850
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
American Trypanosomiasis
Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Reduced bone mineral density, Osteoporosis, Recurrent fractures, Delayed skeletal matur... ORPHA:2410
Senior-Loken Syndrome
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Abnormality of bone mineral den... ORPHA:3156
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Anemia, Wormian bones, Omphalocele, Increased body weight, Delayed sk... OMIM:614450
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Pancytopenia, Ele... OMIM:616050
Felty Syndrome
Abnormal joint morphology, Osteolysis, Anemia, Abnormal lymphocyte morphology, Arthritis, Thrombo... ORPHA:47612
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Homocystinuri... OMIM:614857
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Cystinosis
Rickets, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Hypokalemia, Renal tubu... ORPHA:213
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis, Anemia OMIM:606069
Frontometaphyseal Dysplasia 1
Craniosynostosis, Hydronephrosis, Increased density of long bone diaphyses, Scoliosis, Camptodact... OMIM:305620
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus ORPHA:231736
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Thrombotic Thrombocytopenic Purpura
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... ORPHA:54057
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lipodystrophy, Increased CD4:CD8 ratio, Failure to thrive... OMIM:618048
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616501
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Anemia, Congenital thrombocytopenia, Thrombocytopenia, R... OMIM:616738
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Patent ductus arteriosus, Anemia ORPHA:2123
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypophosphatemia, Bone pain, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency ... ORPHA:89937
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Cataract, Small for gestational age, Lack of facial subcutaneous fat, M... ORPHA:2959
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Renal phosphate wasting, Osteomalacia, Abnormal trabecular bone morph... ORPHA:289176
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Leukopenia, Hyperuricemia, Anemia, Chronic kidney disease, Increased blood urea nitr... OMIM:613845
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypophosphatemia, Hypocalcemic seizures, Bone pain, Enamel hypoplasia, Failure to thrive... OMIM:264700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency