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Gene: Clpp MGI:1858213

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Gene Summary

Name:
caseinolytic mitochondrial matrix peptidase proteolytic subunit
Synonyms:
D17Wsu160e

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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
increased circulating cholesterol level Clpptm1a(EUCOMM)Wtsi HOM   Early adult 7.09×10-06
increased Ly6C high monocyte number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased hematocrit Clpptm1a(EUCOMM)Wtsi HOM   Early adult 1.60×10-05
increased circulating glycerol level Clpptm1a(EUCOMM)Wtsi HOM Early adult 3.95×10-06
increased hemoglobin content Clpptm1a(EUCOMM)Wtsi HOM   Early adult 5.06×10-06
increased KLRG1-positive NK cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased total body fat amount Clpptm1a(EUCOMM)Wtsi HOM Early adult 5.97×10-10
decreased red blood cell distribution width Clpptm1a(EUCOMM)Wtsi HOM   Early adult 3.74×10-06
increased circulating alkaline phosphatase level Clpptm1a(EUCOMM)Wtsi HOM Early adult 5.87×10-08
tremors Clpptm1a(EUCOMM)Wtsi HOM Early adult 4.12×10-05
decreased lean body mass Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.30×10-07
decreased CD4-positive NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased body length Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.24×10-15
increased circulating iron level Clpptm1a(EUCOMM)Wtsi HOM Early adult 1.49×10-12
male infertility Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
thrombocytopenia Clpptm1a(EUCOMM)Wtsi HOM Early adult 4.18×10-06
decreased NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased mature B cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased memory-marker CD4-positive NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased Ly6C low monocyte number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.75×10-14
abnormal bone structure Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.69×10-14
decreased gamma-delta T cell number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating glucose level Clpptm1a(EUCOMM)Wtsi HOM Early adult 1.12×10-06
decreased bone mineral density Clpptm1a(EUCOMM)Wtsi HOM Early adult 5.14×10-13
increased monocyte cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Clpptm1a(EUCOMM)Wtsi HOM Early adult 7.12×10-06
decreased total body fat amount Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.63×10-05
increased circulating aspartate transaminase level Clpptm1a(EUCOMM)Wtsi HOM   Early adult 7.97×10-06
increased B cell number Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating serum albumin level Clpptm1a(EUCOMM)Wtsi HOM Early adult 7.72×10-07
abnormal auditory brainstem response Clpptm1a(EUCOMM)Wtsi HOM   Early adult 4.39×10-06
increased lean body mass Clpptm1a(EUCOMM)Wtsi HOM Early adult 1.32×10-06
decreased memory-marker CD4-negative NK T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
female infertility Clpptm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Clpptm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased mean corpuscular hemoglobin Clpptm1a(EUCOMM)Wtsi HOM Early adult 3.88×10-15
decreased circulating fructosamine level Clpptm1a(EUCOMM)Wtsi HOM Early adult 2.48×10-07
increased circulating bilirubin level Clpptm1a(EUCOMM)Wtsi HOM Early adult 4.15×10-18

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lacZ Expression

Expression data not available

Associated Images

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

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DSS Histology

Images

8 Images

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Spleen Immunophenotyping

Images associated with FACS analysis

48 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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Bone marrow immunophenotyping

Images associated with FACS analysis

5 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

10 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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Eye Morphology

Images Slit Lamp

5 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Clpptm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 126 images

Clpptm1a(EUCOMM)Wtsi
decreased body size, decreased body length, HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
decreased body length, decreased body size, HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
abnormal coat/hair pigmentation, WT, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
decreased body size, decreased body length, HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
decreased body size, decreased body length, HOM, Female, WTSI

View all 9 images

Clpptm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Male, WTSI
Clpptm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
abnormal placement of pupils, HOM, Male, WTSI
Clpptm1a(EUCOMM)Wtsi
mydriasis, HOM, Female, WTSI
Clpptm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Male, WTSI

Human diseases caused by Clpp 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 Clpp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Delayed femoral head ossification, Leukocytosis, Limited ... ORPHA:168621
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elevated circulating C-rea... OMIM:619644
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Osteopenia, Eosino... ORPHA:486
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Sickle Cell Anemia
Elevated circulating creatinine concentration, Hemolytic anemia, Osteomyelitis, Unconjugated hype... ORPHA:232
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Myoclonus, Intention tremor, Osteopenia, Hypocholesterolemia, Thrombocytop... OMIM:610539
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... OMIM:237800
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat... OMIM:267700
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Increased circulating... OMIM:616050
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, ... OMIM:612526
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, ... OMIM:209950
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Infantile Sialic Acid Storage Disease
Failure to thrive, Osteopenia, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Arthritis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Increased pro... OMIM:615559
Hemochromatosis, Type 2A
Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea OMIM:602390
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... ORPHA:90041
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Congenital Disorder Of Glycosylation, Type Iik
Low-set ears, Joint laxity, Elevated circulating creatine kinase concentration, Failure to thrive... OMIM:614727
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... OMIM:226990
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity OMIM:615703
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... OMIM:603552
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Pancytopenia, Hepatosplenomegaly, Hem... OMIM:603553
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Leishmaniasis
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ... ORPHA:507
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Forsythe-Wakeling Syndrome
Macrotia, Decreased body weight, Low-set ears, Thrombocytopenia, Osteoporosis OMIM:613606
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... ORPHA:398063
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... OMIM:160120
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Increased bone mineral density, Hepatosplenomegaly, Hypertonia, Thrombocytopenia, ... OMIM:259720
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... OMIM:616860
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hemochromatosis, Type 3
Anemia, Impotence, Arthritis, Elevated transferrin saturation, Lymphopenia, Increased circulating... OMIM:604250
Young Syndrome
Azoospermia, Bronchiectasis OMIM:279000
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia OMIM:619302
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Increased circulating... OMIM:613101
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... ORPHA:91547
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Juvenile rheumatoid arthritis, ... ORPHA:158061
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Hypermanganesemia With Dystonia 1
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... OMIM:613280
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopenia, Babinski sign, Ataxia, Dysmetr... OMIM:159550
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... ORPHA:1667
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... OMIM:308240
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... OMIM:601775
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Ataxia, Failure to thrive, Thrombocytopenia, Athetosis, Folate-responsiv... OMIM:229050
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration... ORPHA:713
Erythrocytosis, Familial, 2
Increased hematocrit, Failure to thrive, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor OMIM:613724
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Sensorineural heari... ORPHA:79237
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Hypogonadism, Ataxia, Lymphopenia, Hypoglycemia, Hypertriglycer... OMIM:617575
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Os... OMIM:614172
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Sensorineural hearing impairment,... OMIM:612541
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Intermediate Osteopetrosis
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Cranial nerve ... ORPHA:210110
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Gait disturbance, Hypogonadism ORPHA:1875
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Reticulocytosis, A... OMIM:612126
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Failure to thr... ORPHA:181393
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia OMIM:619301
Eosinophilic Gastroenteritis
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocyt... ORPHA:2070
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... OMIM:618963
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... OMIM:232700
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... ORPHA:432
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Ring Chromosome 21 Syndrome
Diabetes insipidus, Decreased circulating antibody level, Infertility, Azoospermia, Gait disturba... ORPHA:1445
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... ORPHA:10
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... OMIM:232800
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lipodystrophy, Elevated circulatin... OMIM:618048
Wilson Disease
Limb dystonia, Decreased circulating ceruloplasmin concentration, Thrombocytopenia, Chondrocalcin... OMIM:277900
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Acne ORPHA:3000
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:616278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Anemia, Optic atrophy, Choreoathetosis, Hemiplegia/hemiparesis, Hyperammonemia, Thrombocy... ORPHA:289916
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Anemia, Splenomegaly, Ketotic hypoglycemia, Oligomenorrhea, Elevated circ... ORPHA:79240
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... OMIM:618892
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Thrombocytopenia, Neut... ORPHA:79312
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnorma... ORPHA:848
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cog4-Cdg
Limb hypertonia, Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Failure to t... ORPHA:263501
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Hyperammonemia, Tetrapar... ORPHA:27
Spermatogenic Failure 17
Male infertility OMIM:617214
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Failure to thrive, Osteopenia, Abnormal pinna morpho... OMIM:617475
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Arthritis, Reticulocytos... OMIM:210250
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increase... ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Failure to thrive, Increased ... OMIM:278000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
48,Xyyy Syndrome
Primary gonadal insufficiency, Acne, Azoospermia, Male hypogonadism ORPHA:99329
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Osteopenia OMIM:619256
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... OMIM:241600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Anemia, Splenomegaly, Oligomenorrhea, Abnormal erythrocyte enzyme level, ... ORPHA:264580
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia, Hearing impairment ORPHA:79234
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Failure to thrive, Extramedullary hematopoiesis, Thrombocytopenia, Neutropeni... OMIM:615285
Propionic Acidemia
Anemia, Hyperglycinemia, Limb hypertonia, Pancytopenia, Failure to thrive, Hypoglycemia, Hyperamm... OMIM:606054
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity, Hypercholesterolemia OMIM:608320
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Dystonia, Splenomegaly OMIM:615010
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Abs... ORPHA:66628
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infections OMIM:608971
Analbuminemia
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... OMIM:616000
Systemic Lupus Erythematosus 17
Chorea, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... ORPHA:247598
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Weight loss, Abnormal B cell count, Osteolysis, Osteoporosis ORPHA:100024
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... OMIM:613011
Immunodeficiency 19
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... OMIM:615617
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Rickets, Failure to thri... ORPHA:79303
Aicardi-Goutieres Syndrome 3
Spasticity, Thrombocytopenia, Dystonia, Hepatosplenomegaly OMIM:610329
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Perrault Syndrome 4
Gait ataxia, Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secon... OMIM:615300
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Absence of secondary se... ORPHA:179494
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... ORPHA:529799
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Beta-Thalassemia Intermedia
Increased susceptibility to fractures, Abnormality of iron homeostasis, Hypogonadism, Increased H... ORPHA:231222
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Calvarial osteosclerosis, Optic atrophy, Increased bone mineral density, H... OMIM:259700
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
3-Methylglutaconic Aciduria Type 4
Spasticity, Failure to thrive, Hypoglycemia, Thrombocytopenia, Hearing impairment ORPHA:67048
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Hyperb... ORPHA:822
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... ORPHA:90362
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Isolated Agammaglobulinemia
Anemia, Cellulitis, Arthritis, Abnormality of neutrophils, Recurrent cutaneous abscess formation,... ORPHA:229717
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Camptodactyly, Failure to thrive, Elevated circulating creatinine concentration, Thromboc... OMIM:608104
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614897
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Abetalipoproteinemia
Gait ataxia, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Upper motor neu... ORPHA:14
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous... OMIM:598500
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... ORPHA:292
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Graft Versus Host Disease
Limited elbow movement, Stiff interphalangeal joints, Arthritis, Hyperbilirubinemia, Fasciitis, L... ORPHA:39812
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hyperinsulinemia, Oligomenorrhea, Bone cyst, Adipose tissue loss, Insu... ORPHA:528
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Fumarase Deficiency
Optic atrophy, Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Polycythemia, Failure to ... OMIM:606812
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Glycogen Storage Disease Ixa1
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Abnormality of somatosensory evoked potentials, Limitation of movement at... ORPHA:206594
Hemochromatosis, Type 4
Anemia, Impotence, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus... OMIM:606069
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... ORPHA:288
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... OMIM:266200
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Infertility, Azoospermia, Chronic sinusitis, Chronic rhinitis, Absent o... OMIM:618300
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Failure to thrive, Female infertility, Loss of ambulation, Mitoc... OMIM:619518
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number, Gait disturbance, Difficulty walking ORPHA:352470
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Myoclonus, Failure to thrive, Hypoglycemia, Hypertonia OMIM:610090
Rh Deficiency Syndrome
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... ORPHA:71275
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating threonine concentration, Pyridoxine-responsive sideroblastic anemia, Abnorma... ORPHA:79096
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Decreased proportion... OMIM:615513
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Thrombocytopenia OMIM:601815
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... OMIM:614857
Osteopetrosis, Autosomal Recessive 8
Anemia, Optic atrophy, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly, Facial p... OMIM:615085
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Impaired ADP-induced platelet aggregation, Impaired epinephrine... OMIM:155100
Rhabdoid Tumor
Anemia, Cerebral palsy, Weight loss, Hemiplegia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Macrotia, Abnormal subcutaneous fat tissue distribution, Premature ovarian i... OMIM:212065
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... OMIM:235700
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Flexion contracture, Arthritis, Lymphopenia, Failure to thrive, Lipodystrophy, Panniculit... OMIM:617591
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Spherocytosis, Type 4
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Gait disturbance, Erectile dysfunction, Testicula... ORPHA:481
Spherocytosis, Type 2
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Failure to thrive... OMIM:613845
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Abnormality of the mitochondrion, Tremor, Difficulty walkin... ORPHA:330050
Myopathy With Extrapyramidal Signs
Chorea, Hyperlysinemia, Optic atrophy, Clumsiness, Abnormality of extrapyramidal motor function, ... OMIM:615673
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... ORPHA:2298
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Sensorineural hearing impairment, Increased circulating ferritin co... ORPHA:540
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis OMIM:301083
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoospermia, Ambiguous ge... ORPHA:261519
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Wt Limb-Blood Syndrome
Sensorineural hearing impairment, Radioulnar synostosis, Pancytopenia, Joint contracture of the 5... OMIM:194350
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance ORPHA:75563
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... OMIM:251880
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ... ORPHA:275555
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoglyce... OMIM:617053
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
X-Linked Agammaglobulinemia
Anemia, Osteomyelitis, Sensorineural hearing impairment, Weight loss, Cellulitis, Arthritis, Hypo... ORPHA:47
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Sensorineural hearing impairment, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, M... OMIM:124900
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Hypogonadism, Secondary amenorrhea, Elevated transferrin saturation, Increa... OMIM:613313
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Hypercholesterolemia OMIM:301033
Overlap Myositis
Leukopenia, Abnormal circulating lipid concentration, Abnormality of connective tissue, Rheumatoi... ORPHA:206572
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma OMIM:618840
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... OMIM:208920
Lead Poisoning
Poor fine motor coordination, Abnormal T cell morphology, Anemia, Decreased female libido, Small ... ORPHA:330015
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Myoclonus, Reticulocytosis, He... OMIM:618278
Spherocytosis, Type 1
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:182900
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Hyperalaninemia... ORPHA:470
Transcobalamin Deficiency
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia ORPHA:859
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Optic atrophy, Optic disc pallor, Increased bone mineral density, Re... OMIM:611490
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Classic Galactosemia
Decreased fertility in females, Postural tremor, Secondary amenorrhea, Premature ovarian insuffic... ORPHA:79239
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Clumsiness, Hypercholesterolemia ORPHA:488650
Cystic Echinococcosis
Peritoneal abscess, Weight loss, Splenic cyst, Hyperbilirubinemia, Eosinophilia, Bone cyst, Abscess ORPHA:400
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... ORPHA:8
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Hypercholesterolemia OMIM:607250
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Lipoatrophy, Hearing impairment ORPHA:79087
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory sideroblasti... OMIM:557000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Oligomenorrhea, Abnormal erythrocyte enzyme level, Elevated circulating c... ORPHA:370
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammone... OMIM:251000
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... ORPHA:79277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... OMIM:617241
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Aceruloplasminemia
Chorea, Anemia, Blepharospasm, Aceruloplasminemia, Abnormality of extrapyramidal motor function, ... OMIM:604290
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hypogonadism, Smal... ORPHA:73272
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Hypoalbuminemia, Ataxia, Hypercholesterolemia ORPHA:94124
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia ORPHA:75234
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Osteol... ORPHA:98850
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... OMIM:618849
Osteopetrosis, Autosomal Recessive 2