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Gene: Mcm4 MGI:103199

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Gene Summary

Name:
minichromosome maintenance complex component 4
Synonyms:
19G,  mCdc21,  Mcmd4,  Cdc21

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Mcm4tm1b(KOMP)Mbp HET Early adult 4.76×10-05
embryonic lethality prior to organogenesis Mcm4tm1b(KOMP)Mbp HOM   E9.5 0.00
preweaning lethality, complete penetrance Mcm4tm1b(KOMP)Mbp HOM   Early adult 0.00
increased grip strength Mcm4tm1b(KOMP)Mbp HET Early adult 2.37×10-05
embryonic lethality prior to tooth bud stage Mcm4tm1b(KOMP)Mbp HOM   E12.5 0.00

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote Not available
Oviduct  Section images heterozygote Not available
Skin  Section images heterozygote Ambiguous
Thyroid gland  Section images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Epididymis 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)
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 Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas 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 Not available
Skeletal muscle 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 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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)
Vesicular gland N/A heterozygote Not available
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)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 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)
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)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 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%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
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)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 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 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Sleep Wake

Wake state (bmp file)

4 Images

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Adult LacZ

LacZ Images Section

5 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

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Human diseases caused by Mcm4 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.

The table below shows human diseases associated to Mcm4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphoprolif... OMIM:609981

The table below shows human diseases predicted to be associated to Mcm4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... OMIM:133180
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability OMIM:614082
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
N Syndrome
Neoplasm, Leukemia, Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... OMIM:614470
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphoprolif... OMIM:609981
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Bone m... OMIM:605724
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice ORPHA:33574
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... OMIM:619041
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity... OMIM:616871
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... ORPHA:86841
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslinking agents, An... OMIM:617243
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma, Yellow nails, Nail dystrophy ORPHA:166113
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Mantle Cell Lymphoma
B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... OMIM:619126
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 16
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Lymphedema, Primary, With Myelodysplasia
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Trichomegaly
Cataract OMIM:190330
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Unclassified Myelodysplastic Syndrome
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... ORPHA:98827
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... ORPHA:79140
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... OMIM:614172
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation, Growth delay, Short stature OMIM:613078
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Postnatal growth retardation, Intrauterine g... OMIM:609054
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Harderoporphyria
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... OMIM:224120
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Immunodeficiency 76
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability ORPHA:859
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... OMIM:300853
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Lymphadenopathy ORPHA:86893
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Wt Limb-Blood Syndrome
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia OMIM:194350
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukoc... ORPHA:98849
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemia, Myelodysplasia, Pancyt... OMIM:614742
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... OMIM:601399
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Chromosome breakage, Breast carcinoma OMIM:617883
Immunodeficiency 36
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati... OMIM:616005
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, H... ORPHA:98850
Scleroderma, Familial Progressive
Abnormal abdomen morphology, Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Lymphadenopathy, Reduced natu... OMIM:618261
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Primary Erythromelalgia
Leukemia ORPHA:90026
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Fanconi Anemia, Complementation Group N
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by ... OMIM:610832
Amed Syndrome, Digenic
Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid ... OMIM:619151
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Cryptorchidism, Lymphadenopathy, Acute leukem... ORPHA:99812
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Non-Hodgkin lymphoma, Basal cell carci... ORPHA:3261
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Gray Platelet Syndrome
Myelodysplasia, Thrombocytopenia, Splenomegaly ORPHA:721
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... OMIM:232800
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Essential Thrombocythemia
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal co... ORPHA:97290
Immunodeficiency 105
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germin... OMIM:619924
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Acute lympho... ORPHA:486
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Cataract 47
Cataract, Microcornea OMIM:612018
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Immunodeficiency 64
B-cell lymphoma, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresp... OMIM:618534
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage, Short stature OMIM:613390
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... OMIM:619375
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy ORPHA:98293
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Kasabach-Merritt Syndrome
Capillary hemangioma, Tufted angioma, Hemangioma, Leukopenia, Reticulocytosis, Hepatic hemangioma... ORPHA:2330
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Fanconi Anemia, Complementation Group E
Neutropenia, Cryptorchidism, Thrombocytopenia, Pancytopenia, Chromosomal breakage induced by cros... OMIM:600901
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... ORPHA:90033
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Storage Pool Platelet Disease
Myelodysplasia, Acute leukemia, Decreased mean platelet volume OMIM:185050
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Meningioma, Nephroblastoma OMIM:602501
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Lymphadenopathy ORPHA:545
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... ORPHA:86839
Ataxia-Telangiectasia
Neoplasm, Lymphopenia, Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, A... ORPHA:100
Fanconi Anemia, Complementation Group A
Neutropenia, Cryptorchidism, Thrombocytopenia, Pancytopenia, Chromosomal breakage induced by cros... OMIM:227650
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... OMIM:615559
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... OMIM:613011
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Thymoma
Neoplasm, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm... ORPHA:99867
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Adrenocortical carcinoma, Hypertrichosis, Lung adenocarci... ORPHA:1501
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Fanconi Anemia, Complementation Group C
Neutropenia, Cryptorchidism, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Chromos... OMIM:227645
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Acute myeloid leukemia ORPHA:71493
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis ORPHA:713
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... ORPHA:2584
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy ORPHA:37748
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multiple lipomas, Ves... ORPHA:137605
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... ORPHA:824
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Short stature OMIM:619060
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Progressive Familial Intrahepatic Cholestasis
Neoplasm, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Bloom Syndrome
Chromosome breakage, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Cryptorchidism, ... OMIM:210900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Mastocytosis
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Acute leukemia ORPHA:98292
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Neoplasm ... ORPHA:543
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Immunodeficiency, Common Variable, 2
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Lymphadenopathy OMIM:240500
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Proximal Myotonic Myopathy
Cataract ORPHA:606
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Cryptorchidism, Acute leukemia ORPHA:281090
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulmi... OMIM:308240
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Decreased respo... OMIM:609053
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous system,... ORPHA:83469
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Fanconi Anemia, Complementation Group F
Cryptorchidism, Decreased response to growth hormone stimulation test, Leukopenia, Bone marrow hy... OMIM:603467
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Normocytic anemia, Lymphoma, Abnormality of neutrophils, Monoclonal i... ORPHA:33226
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Abnormality of chromosome stability ORPHA:2268
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, ... OMIM:274150
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Thrombocytopenia, Bone marrow hypocellularity, Pan... OMIM:227646
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Neoplasm... ORPHA:100026
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... ORPHA:811
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Granulomatous Slack Skin
Hodgkin lymphoma, Lymphoma, Abnormality of the lymph nodes ORPHA:33111
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal hair quantity, Breast carcinoma, Gastrointestinal stroma ... ORPHA:221
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Polycythemia Vera
Hepatomegaly, Splenomegaly, Myelodysplasia, Portal hypertension, Acute leukemia ORPHA:729
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Diamond-Blackfan Anemia 5
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612528
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Ataxia-Telangiectasia
Hodgkin lymphoma, Lymphopenia, Hypoplasia of the thymus, Non-Hodgkin lymphoma, Lymphoma, T lympho... OMIM:208900
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Nijmegen Breakage Syndrome
Neoplasm, B-cell lymphoma, Glioma, Rhabdomyosarcoma, Lymphoma, Hemolytic anemia, T-cell lymphoma,... ORPHA:647
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... ORPHA:3162
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Fanconi Anemia, Complementation Group U
Growth delay, Chromosome breakage OMIM:617247
Pyoderma Gangrenosum
Myelodysplasia, Myeloid leukemia ORPHA:48104
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... ORPHA:1359
Fanconi Anemia, Complementation Group L
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia, Chromos... OMIM:614083
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Lymphoproliferative disorder, Lymphadenitis, Eosin... ORPHA:911
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Persistence of hemoglobin F, Myelod... OMIM:260400
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Lymphoma, Splenomegaly ORPHA:98375
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Abscess, Acu... OMIM:618935
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Sweet Syndrome
Neoplasm, Neutrophilia, Leukocytosis, Breast carcinoma, Sterile abscess, Hematological neoplasm, ... ORPHA:3243
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... ORPHA:1414
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Neoplasm of the skin, Hemolytic anemia, Poikilocytosis, S... ORPHA:79277
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme level ORPHA:100924
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Babesiosis
Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaundice ORPHA:108
Pearson Syndrome